Canonical Allele Identifier: CA16612194
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 405237
dbSNP Id: rs1060500613

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7571564del , CM000668.2:g.7571564del GRCh38
NC_000006.11:g.7571797del , CM000668.1:g.7571797del GRCh37
NC_000006.10:g.7516796del NCBI36
NG_008803.1:g.34928del , LRG_423:g.34928del

Transcript Alleles

HGVS Amino-acid change
ENST00000710359.1:c.1883del ENSP00000518230.1:p.Gly628AlafsTer8
ENST00000684395.1:n.267del
ENST00000379802.8:c.1883del MANE Select ENSP00000369129.3:p.Gly628AlafsTer8
ENST00000379802.7:c.1883del ENSP00000369129.3:p.Gly628AlafsTer8
ENST00000418664.2:c.1883del ENSP00000396591.2:p.Gly628AlafsTer8
NM_001008844.1:c.1883del NP_001008844.1:p.Gly628AlafsTer8
NM_004415.2:c.1883del , LRG_423t1:c.1883del NP_004406.2:p.Gly628AlafsTer8
XM_011514323.1:c.1883del XP_011512625.1:p.Gly628AlafsTer8
NM_001008844.2:c.1883del NP_001008844.1:p.Gly628AlafsTer8
NM_001319034.1:c.1883del NP_001305963.1:p.Gly628AlafsTer8
NM_004415.3:c.1883del NP_004406.2:p.Gly628AlafsTer8
NM_004415.4:c.1883del MANE Select NP_004406.2:p.Gly628AlafsTer8
NM_001008844.3:c.1883del NP_001008844.1:p.Gly628AlafsTer8
NM_001319034.2:c.1883del NP_001305963.1:p.Gly628AlafsTer8