Linked Data
gnomAD v3:
6-152239872-A-AACATGATGAAACAAACCAAC
gnomAD v4:
6-152239872-A-AACATGATGAAACAAACCAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152239873_152239874insCATGATGAAACAAACCAACA , CM000668.2:g.152239873_152239874insCATGATGAAACAAACCAACA | GRCh38 |
| NC_000006.11:g.152561008_152561009insCATGATGAAACAAACCAACA , CM000668.1:g.152561008_152561009insCATGATGAAACAAACCAACA | GRCh37 |
| NC_000006.10:g.152602701_152602702insCATGATGAAACAAACCAACA | NCBI36 |
| NG_012855.1:g.402527_402528insGTTGGTTTGTTTCATCATGT | |
| NG_012855.2:g.402527_402528insGTTGGTTTGTTTCATCATGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.19894-167_19894-166insGTTGGTTTGTTTCATCATGT MANE Select | ENSP00000356224.5:n.19894-167_19894-166insGTTGGTTTGTTTCATCATG... | |
| ENST00000423061.6:c.19681-167_19681-166insGTTGGTTTGTTTCATCATGT | ENSP00000396024.1:n.19681-167_19681-166insGTTGGTTTGTTTCATCATG... | |
| ENST00000341594.9:c.18679-167_18679-166insGTTGGTTTGTTTCATCATGT | ENSP00000341887.6:n.18679-167_18679-166insGTTGGTTTGTTTCATCATG... | |
| ENST00000367255.9:c.19894-167_19894-166insGTTGGTTTGTTTCATCATGT | ENSP00000356224.5:n.19894-167_19894-166insGTTGGTTTGTTTCATCATG... | |
| ENST00000367256.9:n.3586-167_3586-166insGTTGGTTTGTTTCATCATGT | ||
| ENST00000409694.6:n.3478-167_3478-166insGTTGGTTTGTTTCATCATGT | ||
| ENST00000423061.5:c.19681-167_19681-166insGTTGGTTTGTTTCATCATGT | ENSP00000396024.1:n.19681-167_19681-166insGTTGGTTTGTTTCATCATG... | |
| NM_033071.3:c.19681-167_19681-166insGTTGGTTTGTTTCATCATGT | NP_149062.1:n.19681-167_19681-166insGTTGGTTTGTTTCATCATGT | |
| NM_182961.3:c.19894-167_19894-166insGTTGGTTTGTTTCATCATGT | NP_892006.3:n.19894-167_19894-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715407.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715470.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715408.1:c.19918-167_19918-166insGTTGGTTTGTTTCATCATGT | XP_006715471.1:n.19918-167_19918-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715409.1:c.19909-167_19909-166insGTTGGTTTGTTTCATCATGT | XP_006715472.1:n.19909-167_19909-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715410.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715473.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715411.1:c.19879-167_19879-166insGTTGGTTTGTTTCATCATGT | XP_006715474.1:n.19879-167_19879-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715412.1:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_006715475.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715413.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715476.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715414.1:c.19858-167_19858-166insGTTGGTTTGTTTCATCATGT | XP_006715477.1:n.19858-167_19858-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715415.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715478.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715416.1:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_006715479.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715417.1:c.19789-167_19789-166insGTTGGTTTGTTTCATCATGT | XP_006715480.1:n.19789-167_19789-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715420.1:c.19777-167_19777-166insGTTGGTTTGTTTCATCATGT | XP_006715483.1:n.19777-167_19777-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715421.1:c.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | XP_006715484.1:n.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715422.1:c.19771-167_19771-166insGTTGGTTTGTTTCATCATGT | XP_006715485.1:n.19771-167_19771-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715423.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715486.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715424.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715487.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715425.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715488.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535641.1:c.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | XP_011533943.1:n.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535642.1:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_011533944.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535643.1:c.19765-167_19765-166insGTTGGTTTGTTTCATCATGT | XP_011533945.1:n.19765-167_19765-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535644.1:c.18205-167_18205-166insGTTGGTTTGTTTCATCATGT | XP_011533946.1:n.18205-167_18205-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535645.1:c.17698-167_17698-166insGTTGGTTTGTTTCATCATGT | XP_011533947.1:n.17698-167_17698-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535647.1:c.13165-167_13165-166insGTTGGTTTGTTTCATCATGT | XP_011533949.1:n.13165-167_13165-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715408.2:c.19918-167_19918-166insGTTGGTTTGTTTCATCATGT | XP_006715471.1:n.19918-167_19918-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715410.2:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715473.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715412.2:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_006715475.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715413.2:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715476.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715415.2:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715478.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715416.2:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_006715479.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715417.2:c.19789-167_19789-166insGTTGGTTTGTTTCATCATGT | XP_006715480.1:n.19789-167_19789-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715420.2:c.19777-167_19777-166insGTTGGTTTGTTTCATCATGT | XP_006715483.1:n.19777-167_19777-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715421.2:c.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | XP_006715484.1:n.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715423.2:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715486.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715424.2:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715487.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_006715425.2:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_006715488.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535641.2:c.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | XP_011533943.1:n.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535642.2:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_011533944.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_011535645.2:c.17698-167_17698-166insGTTGGTTTGTTTCATCATGT | XP_011533947.1:n.17698-167_17698-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010608.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_016866097.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010609.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_016866098.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010610.1:c.19909-167_19909-166insGTTGGTTTGTTTCATCATGT | XP_016866099.1:n.19909-167_19909-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010611.2:c.19903-167_19903-166insGTTGGTTTGTTTCATCATGT | XP_016866100.1:n.19903-167_19903-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010612.1:c.19852-167_19852-166insGTTGGTTTGTTTCATCATGT | XP_016866101.1:n.19852-167_19852-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010613.1:c.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | XP_016866102.1:n.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010614.1:c.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | XP_016866103.1:n.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010615.1:c.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | XP_016866104.1:n.19774-167_19774-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010616.1:c.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | XP_016866105.1:n.19930-167_19930-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010617.1:c.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | XP_016866106.1:n.19927-167_19927-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010618.1:c.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | XP_016866107.1:n.19915-167_19915-166insGTTGGTTTGTTTCATCATGT | |
| XM_017010619.1:c.18205-167_18205-166insGTTGGTTTGTTTCATCATGT | XP_016866108.1:n.18205-167_18205-166insGTTGGTTTGTTTCATCATGT | |
| XR_001743287.1:n.20448-167_20448-166insGTTGGTTTGTTTCATCATGT | ||
| NM_182961.4:c.19894-167_19894-166insGTTGGTTTGTTTCATCATGT MANE Select | NP_892006.3:n.19894-167_19894-166insGTTGGTTTGTTTCATCATGT | |
| NM_033071.5:c.19681-167_19681-166insGTTGGTTTGTTTCATCATGT | NP_149062.2:n.19681-167_19681-166insGTTGGTTTGTTTCATCATGT |