Linked Data
dbSNP Id:
rs776755079
ExAC:
19:36338915 ACCC / A
gnomAD v2:
19-36338915-ACCC-A
gnomAD v4:
19-35848013-ACCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848016_35848018del , CM000681.2:g.35848016_35848018del | GRCh38 |
| NC_000019.9:g.36338918_36338920del , CM000681.1:g.36338918_36338920del | GRCh37 |
| NC_000019.8:g.41030758_41030760del | NCBI36 |
| NG_013356.2:g.26272_26274del , LRG_693:g.26272_26274del | |
| NG_051206.1:g.1382_1384del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1440+25_1440+27del MANE Select | ENSP00000368190.4:n.1440+25_1440+27del | |
| ENST00000353632.6:c.1440+25_1440+27del | ENSP00000343634.5:n.1440+25_1440+27del | |
| ENST00000378910.9:c.1440+25_1440+27del | ENSP00000368190.4:n.1440+25_1440+27del | |
| ENST00000592132.1:n.472_474del | ||
| NM_004646.3:c.1440+25_1440+27del , LRG_693t1:c.1440+25_1440+27del | NP_004637.1:n.1440+25_1440+27del | |
| NM_004646.4:c.1440+25_1440+27del MANE Select | NP_004637.1:n.1440+25_1440+27del |