Linked Data
ClinVar Variation Id:
214685
ClinVar RCV Id:
RCV000199847
dbSNP Id:
rs863224077
gnomAD v4:
3-139352680-CGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139352682_139352683del , CM000665.2:g.139352682_139352683del | GRCh38 |
| NC_000003.11:g.139071524_139071525del , CM000665.1:g.139071524_139071525del | GRCh37 |
| NC_000003.10:g.140554214_140554215del | NCBI36 |
| NG_012174.1:g.13664_13665del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478464.6:c.558_559del | ENSP00000419303.2:p.Gly187LysfsTer3 | |
| ENST00000480644.2:c.684_685del | ENSP00000420229.2:p.Gly229LysfsTer3 | |
| ENST00000492644.2:n.3022_3023del | ||
| ENST00000684961.1:c.387_388del | ENSP00000508439.1:p.Gly130LysfsTer3 | |
| ENST00000686433.1:c.714_715del | ENSP00000509173.1:p.Gly239LysfsTer3 | |
| ENST00000687538.1:c.558_559del | ENSP00000508887.1:p.Gly187LysfsTer3 | |
| ENST00000688697.1:c.768_769del | ENSP00000510396.1:p.Gly257LysfsTer3 | |
| ENST00000689286.1:c.558_559del | ENSP00000509897.1:p.Gly187LysfsTer3 | |
| ENST00000689925.1:c.*109_*110del | ENSP00000510082.1:n.*109_*110del | |
| ENST00000690298.1:c.*409_*410del | ENSP00000509376.1:n.*409_*410del | |
| ENST00000691070.1:c.684_685del | ENSP00000509723.1:p.Gly229LysfsTer3 | |
| ENST00000692727.1:n.3290_3291del | ||
| ENST00000693155.1:n.1445_1446del | ||
| ENST00000310776.9:c.765_766del | ENSP00000310785.5:p.Gly256LysfsTer3 | |
| ENST00000680020.1:c.768_769del MANE Select | ENSP00000505414.1:p.Gly257LysfsTer3 | |
| ENST00000310776.8:c.768_769del | ENSP00000310785.4:p.Gly257LysfsTer3 | |
| ENST00000465056.5:c.765_766del | ENSP00000418233.1:p.Gly256LysfsTer3 | |
| ENST00000478464.5:c.645_646del | ENSP00000419303.1:p.Gly216LysfsTer3 | |
| ENST00000480644.1:c.253_254del | ||
| ENST00000480938.5:n.1422_1423del | ||
| ENST00000492644.1:n.1813_1814del | ||
| ENST00000495075.5:c.768_769del | ENSP00000418008.1:p.Gly257LysfsTer3 | |
| ENST00000498505.5:c.*365_*366del | ENSP00000420482.1:n.*365_*366del | |
| NM_020191.2:c.768_769del | NP_064576.1:p.Gly257LysfsTer3 | |
| XM_005247640.2:c.765_766del | XP_005247697.1:p.Gly256LysfsTer3 | |
| XM_006713703.2:c.714_715del | XP_006713766.1:p.Gly239LysfsTer3 | |
| XM_011512995.1:c.645_646del | XP_011511297.1:p.Gly216LysfsTer3 | |
| XM_011512996.1:c.642_643del | XP_011511298.1:p.Gly215LysfsTer3 | |
| NM_001363857.1:c.645_646del | NP_001350786.1:p.Gly216LysfsTer3 | |
| NM_001363893.1:c.765_766del | NP_001350822.1:p.Gly256LysfsTer3 | |
| NM_020191.3:c.768_769del | NP_064576.1:p.Gly257LysfsTer3 | |
| XM_006713703.4:c.714_715del | XP_006713766.1:p.Gly239LysfsTer3 | |
| XM_011512996.2:c.642_643del | XP_011511298.1:p.Gly215LysfsTer3 | |
| NM_020191.4:c.768_769del MANE Select | NP_064576.1:p.Gly257LysfsTer3 |