Linked Data
dbSNP Id:
rs772817753
gnomAD v2:
19-12776476-ACCATGGGGAT-A
gnomAD v3:
19-12665662-ACCATGGGGAT-A
gnomAD v4:
19-12665662-ACCATGGGGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665665_12665674del , CM000681.2:g.12665665_12665674del | GRCh38 |
| NC_000019.9:g.12776479_12776488del , CM000681.1:g.12776479_12776488del | GRCh37 |
| NC_000019.8:g.12637479_12637488del | NCBI36 |
| NG_008318.1:g.6106_6115del | |
| NG_015814.1:g.3862_3871del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.262+31_262+40del MANE Select | ENSP00000395473.2:n.262+31_262+40del | |
| ENST00000221363.8:c.262+31_262+40del | ENSP00000221363.4:n.262+31_262+40del | |
| ENST00000456935.6:c.262+31_262+40del | ENSP00000395473.2:n.262+31_262+40del | |
| ENST00000466794.5:n.244+31_244+40del | ||
| ENST00000486847.2:c.160-147_160-138del | ENSP00000470174.1:n.160-147_160-138del | |
| ENST00000596512.5:n.201-147_201-138del | ||
| ENST00000597961.1:c.253+31_253+40del | ENSP00000472710.1:n.253+31_253+40del | |
| ENST00000598876.1:c.289+31_289+40del | ENSP00000470533.1:n.289+31_289+40del | |
| ENST00000600281.1:n.303+31_303+40del | ||
| NM_000528.3:c.262+31_262+40del | NP_000519.2:n.262+31_262+40del | |
| NM_001173498.1:c.262+31_262+40del | NP_001166969.1:n.262+31_262+40del | |
| XM_005259913.1:c.262+31_262+40del | XP_005259970.1:n.262+31_262+40del | |
| XM_005259913.2:c.262+31_262+40del | XP_005259970.1:n.262+31_262+40del | |
| XM_024451518.1:c.-757+31_-757+40del | XP_024307286.1:n.-757+31_-757+40del | |
| NM_000528.4:c.262+31_262+40del MANE Select | NP_000519.2:n.262+31_262+40del | |
| NM_001173498.2:c.262+31_262+40del | NP_001166969.1:n.262+31_262+40del |