Canonical Allele Identifier: CA185898
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 180180
ClinVar RCV Id: RCV000157032
dbSNP Id: rs730880023

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7577041_7577045del , CM000668.2:g.7577041_7577045del GRCh38
NC_000006.11:g.7577274_7577278del , CM000668.1:g.7577274_7577278del GRCh37
NC_000006.10:g.7522273_7522277del NCBI36
NG_008803.1:g.40405_40409del , LRG_423:g.40405_40409del

Transcript Alleles

HGVS Amino-acid change
ENST00000379802.8:c.2876_2877+3del
ENST00000379802.7:c.2876_2877+3del
ENST00000418664.2:c.2876_2877+3del
NM_001008844.1:c.2876_2877+3del
NM_004415.2:c.2876_2877+3del , LRG_423t1:c.2876_2877+3del
XM_011514323.1:c.2876_2877+3del
NM_001008844.2:c.2876_2877+3del
NM_001319034.1:c.2876_2877+3del
NM_004415.3:c.2876_2877+3del
NM_004415.4:c.2876_2877+3del
NM_001008844.3:c.2876_2877+3del
NM_001319034.2:c.2876_2877+3del