Linked Data
ClinVar Variation Id:
363
dbSNP Id:
rs267606606
ExAC:
17:29556971 CAAT / C
gnomAD v2:
17-29556971-CAAT-C
gnomAD v4:
17-31229953-CAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31229954_31229956del , CM000679.2:g.31229954_31229956del | GRCh38 |
| NC_000017.10:g.29556972_29556974del , CM000679.1:g.29556972_29556974del | GRCh37 |
| NC_000017.9:g.26581098_26581100del | NCBI36 |
| NG_009018.1:g.139978_139980del , LRG_214:g.139978_139980del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.3015_3017del | ENSP00000512431.1:p.Met1006del | |
| ENST00000696139.1:c.315_317del | ENSP00000512432.1:p.Met106del | |
| ENST00000691014.1:c.3000_3002del | ENSP00000510595.1:p.Met1001del | |
| ENST00000358273.9:c.2970_2972del MANE Select | ENSP00000351015.4:p.Met991del | |
| ENST00000356175.7:c.2970_2972del | ENSP00000348498.3:p.Met991del | |
| ENST00000358273.8:c.2970_2972del | ENSP00000351015.4:p.Met991del | |
| ENST00000456735.6:c.1968_1970del | ENSP00000389907.2:p.Met657del | |
| ENST00000493220.5:n.1506_1508del | ||
| ENST00000495910.6:c.2745_2747del | ||
| ENST00000579081.5:c.3072_3074del | ENSP00000462408.1:p.Met1025del | |
| NM_000267.3:c.2970_2972del , LRG_214t1:c.2970_2972del | NP_000258.1:p.Met991del | |
| NM_001042492.2:c.2970_2972del , LRG_214t2:c.2970_2972del | NP_001035957.1:p.Met991del | |
| XM_005257983.1:c.2970_2972del | XP_005258040.1:p.Met991del | |
| XM_005257984.1:c.2970_2972del | XP_005258041.1:p.Met991del | |
| XM_006721922.1:c.3000_3002del | XP_006721985.1:p.Met1001del | |
| XM_006721923.2:c.2961_2963del | XP_006721986.1:p.Met988del | |
| XM_006721924.1:c.3000_3002del | XP_006721987.1:p.Met1001del | |
| XM_006721925.1:c.3000_3002del | XP_006721988.1:p.Met1001del | |
| XM_006721926.2:c.3000_3002del | XP_006721989.1:p.Met1001del | |
| XM_006721927.1:c.3000_3002del | XP_006721990.1:p.Met1001del | |
| XM_006721928.2:c.3000_3002del | XP_006721991.1:p.Met1001del | |
| XM_011524852.1:c.2997_2999del | XP_011523154.1:p.Met1000del | |
| XM_011524853.1:c.2961_2963del | XP_011523155.1:p.Met988del | |
| XM_011524854.1:c.2961_2963del | XP_011523156.1:p.Met988del | |
| XM_011524855.1:c.2961_2963del | XP_011523157.1:p.Met988del | |
| XM_011524856.1:c.2961_2963del | XP_011523158.1:p.Met988del | |
| XM_011524857.1:c.3000_3002del | XP_011523159.1:p.Met1001del | |
| NM_001042492.3:c.2970_2972del MANE Select | NP_001035957.1:p.Met991del |