Linked Data
dbSNP Id:
rs141850717
gnomAD v2:
2-141720983-CGTGT-C
gnomAD v3:
2-140963414-CGTGT-C
gnomAD v4:
2-140963414-CGTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140963424_140963427del , CM000664.2:g.140963424_140963427del | GRCh38 |
| NC_000002.11:g.141720993_141720996del , CM000664.1:g.141720993_141720996del | GRCh37 |
| NC_000002.10:g.141437463_141437466del | NCBI36 |
| NG_051023.1:g.1174046_1174049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.2888-11478_2888-11475del MANE Select | ENSP00000374135.3:n.2888-11478_2888-11475del | |
| ENST00000389484.7:c.2888-11478_2888-11475del | ENSP00000374135.3:n.2888-11478_2888-11475del | |
| ENST00000434794.1:c.323-11478_323-11475del | ENSP00000413239.1:n.323-11478_323-11475del | |
| ENST00000618808.4:c.2546-11478_2546-11475del | ENSP00000478868.1:n.2546-11478_2546-11475del | |
| NM_018557.2:c.2888-11478_2888-11475del | NP_061027.2:n.2888-11478_2888-11475del | |
| XM_011511352.1:c.2999-11478_2999-11475del | XP_011509654.1:n.2999-11478_2999-11475del | |
| XM_017004341.1:c.2498-11478_2498-11475del | XP_016859830.1:n.2498-11478_2498-11475del | |
| XR_001738778.1:n.4622-11478_4622-11475del | ||
| NM_018557.3:c.2888-11478_2888-11475del MANE Select | NP_061027.2:n.2888-11478_2888-11475del |