Linked Data
dbSNP Id:
rs1430972541
gnomAD v2:
10-63723418-GCT-G
gnomAD v3:
10-61963659-GCT-G
gnomAD v4:
10-61963659-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61963661_61963662del , CM000672.2:g.61963661_61963662del | GRCh38 |
| NC_000010.10:g.63723420_63723421del , CM000672.1:g.63723420_63723421del | GRCh37 |
| NC_000010.9:g.63393426_63393427del | NCBI36 |
| NG_030027.1:g.67408_67409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.502+23253_502+23254del MANE Select | ENSP00000279873.7:n.502+23253_502+23254del | |
| ENST00000644638.1:c.502+23253_502+23254del | ENSP00000494412.1:n.502+23253_502+23254del | |
| ENST00000681100.1:c.502+23253_502+23254del | ENSP00000506119.1:n.502+23253_502+23254del | |
| ENST00000279873.11:c.502+23253_502+23254del | ENSP00000279873.7:n.502+23253_502+23254del | |
| NM_032199.2:c.502+23253_502+23254del | NP_115575.1:n.502+23253_502+23254del | |
| XM_011540262.1:c.502+23253_502+23254del | XP_011538564.1:n.502+23253_502+23254del | |
| XM_024448230.1:c.-66+23253_-66+23254del | XP_024303998.1:n.-66+23253_-66+23254del | |
| NM_032199.3:c.502+23253_502+23254del MANE Select | NP_115575.1:n.502+23253_502+23254del |