Linked Data
ClinVar Variation Id:
2053945
dbSNP Id:
rs764402730
ExAC:
2:44126442 CTGAT / C
gnomAD v2:
2-44126442-CTGAT-C
gnomAD v4:
2-43899303-CTGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899306_43899309del , CM000664.2:g.43899306_43899309del | GRCh38 |
| NC_000002.11:g.44126445_44126448del , CM000664.1:g.44126445_44126448del | GRCh37 |
| NC_000002.10:g.43979949_43979952del | NCBI36 |
| NG_008247.1:g.101699_101702del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.168_171del | ||
| ENST00000472420.6:n.816_819del | ||
| ENST00000483489.2:n.168_171del | ||
| ENST00000681993.1:n.1289_1292del | ||
| ENST00000682303.1:c.*3523_*3526del | ENSP00000508325.1:n.*3523_*3526del | |
| ENST00000682308.1:c.3737_3740del | ENSP00000507056.1:p.Asn1246SerfsTer? | |
| ENST00000682434.1:n.1288_1291del | ||
| ENST00000682480.1:c.3755_3758del | ENSP00000508344.1:p.Asn1252SerfsTer? | |
| ENST00000682546.1:c.3734_3737del | ENSP00000508188.1:p.Asn1245SerfsTer? | |
| ENST00000682585.1:c.3737_3740del | ENSP00000506885.1:p.Asn1246SerfsTer? | |
| ENST00000682595.1:n.4321_4324del | ||
| ENST00000682607.1:c.2155_2158del | ||
| ENST00000682612.1:c.589_592del | ||
| ENST00000682779.1:c.3728_3731del | ENSP00000507947.1:p.Asn1243SerfsTer? | |
| ENST00000682845.1:n.2839_2842del | ||
| ENST00000682885.1:c.3692_3695del | ENSP00000508036.1:p.Asn1231SerfsTer? | |
| ENST00000682933.1:n.3811_3814del | ||
| ENST00000683002.1:c.589_592del | ||
| ENST00000683072.1:n.4321_4324del | ||
| ENST00000683080.1:n.1356_1359del | ||
| ENST00000683125.1:c.3845_3848del | ENSP00000507939.1:p.Asn1282SerfsTer? | |
| ENST00000683213.1:c.3740_3743del | ENSP00000507751.1:p.Asn1247SerfsTer? | |
| ENST00000683220.1:c.3767_3770del | ENSP00000507151.1:p.Asn1256SerfsTer? | |
| ENST00000683329.1:n.4540_4543del | ||
| ENST00000683346.1:c.*3612_*3615del | ENSP00000507458.1:n.*3612_*3615del | |
| ENST00000683409.1:n.2344_2347del | ||
| ENST00000683459.1:n.4324_4327del | ||
| ENST00000683528.1:c.665_668del | ||
| ENST00000683590.1:c.3485_3488del | ENSP00000506820.1:p.Asn1162SerfsTer? | |
| ENST00000683623.1:c.3644_3647del | ENSP00000507702.1:p.Asn1215SerfsTer? | |
| ENST00000683645.1:n.4288_4291del | ||
| ENST00000683796.1:c.*3609_*3612del | ENSP00000508221.1:n.*3609_*3612del | |
| ENST00000683802.1:n.6662_6665del | ||
| ENST00000683833.1:c.3728_3731del | ENSP00000506852.1:p.Asn1243SerfsTer? | |
| ENST00000683994.1:c.3737_3740del | ENSP00000507181.1:p.Asn1246SerfsTer? | |
| ENST00000684290.1:c.*1273_*1276del | ENSP00000507243.1:n.*1273_*1276del | |
| ENST00000684306.1:c.*3650_*3653del | ENSP00000508384.1:n.*3650_*3653del | |
| ENST00000684341.1:n.3757_3760del | ||
| ENST00000684383.1:c.*3375_*3378del | ENSP00000506863.1:n.*3375_*3378del | |
| ENST00000684418.1:n.4918_4921del | ||
| ENST00000684433.1:n.121_124del | ||
| ENST00000684454.1:n.3087_3090del | ||
| ENST00000684619.1:c.*3609_*3612del | ENSP00000508088.1:n.*3609_*3612del | |
| ENST00000684743.1:n.6482_6485del | ||
| ENST00000260665.12:c.3737_3740del MANE Select | ENSP00000260665.7:p.Asn1246SerfsTer? | |
| ENST00000260665.11:c.3737_3740del | ENSP00000260665.7:p.Asn1246SerfsTer? | |
| ENST00000463456.5:n.2780_2783del | ||
| ENST00000472420.5:n.134_137del | ||
| ENST00000483489.1:n.211_214del | ||
| NM_133259.3:c.3737_3740del | NP_573566.2:p.Asn1246SerfsTer? | |
| XM_006711915.2:c.3659_3662del | XP_006711978.1:p.Asn1220SerfsTer? | |
| XM_011532473.1:c.3737_3740del | XP_011530775.1:p.Asn1246SerfsTer? | |
| XM_011532474.1:c.3737_3740del | XP_011530776.1:p.Asn1246SerfsTer? | |
| XM_017003117.1:c.3659_3662del | XP_016858606.1:p.Asn1220SerfsTer? | |
| XR_002958896.1:n.3779_3782del | ||
| NM_133259.4:c.3737_3740del MANE Select | NP_573566.2:p.Asn1246SerfsTer? |