Linked Data
dbSNP Id:
rs759163329
ExAC:
19:12758418 GGA / G
gnomAD v2:
19-12758418-GGA-G
gnomAD v3:
19-12647604-GGA-G
gnomAD v4:
19-12647604-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647610_12647611del , CM000681.2:g.12647610_12647611del | GRCh38 |
| NC_000019.9:g.12758424_12758425del , CM000681.1:g.12758424_12758425del | GRCh37 |
| NC_000019.8:g.12619424_12619425del | NCBI36 |
| NG_008318.1:g.24172_24173del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2665-8_2665-7del MANE Select | ENSP00000395473.2:n.2665-8_2665-7del | |
| ENST00000221363.8:c.2662-8_2662-7del | ENSP00000221363.4:n.2662-8_2662-7del | |
| ENST00000456935.6:c.2665-8_2665-7del | ENSP00000395473.2:n.2665-8_2665-7del | |
| ENST00000466794.5:n.3255-8_3255-7del | ||
| ENST00000493218.5:n.68_69del | ||
| ENST00000597692.1:c.224-8_224-7del | ||
| NM_000528.3:c.2665-8_2665-7del | NP_000519.2:n.2665-8_2665-7del | |
| NM_001173498.1:c.2662-8_2662-7del | NP_001166969.1:n.2662-8_2662-7del | |
| XM_005259913.1:c.2668-8_2668-7del | XP_005259970.1:n.2668-8_2668-7del | |
| XM_011528017.1:c.1564-8_1564-7del | XP_011526319.1:n.1564-8_1564-7del | |
| XM_005259913.2:c.2668-8_2668-7del | XP_005259970.1:n.2668-8_2668-7del | |
| XM_024451518.1:c.1564-8_1564-7del | XP_024307286.1:n.1564-8_1564-7del | |
| NM_000528.4:c.2665-8_2665-7del MANE Select | NP_000519.2:n.2665-8_2665-7del | |
| NM_001173498.2:c.2662-8_2662-7del | NP_001166969.1:n.2662-8_2662-7del |