Canonical Allele Identifier: CA1608606707
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7582947_7582950delinsTAGG , CM000668.2:g.7582947_7582950delinsTAGG GRCh38
NC_000006.11:g.7583180_7583183delinsTAGG , CM000668.1:g.7583180_7583183delinsTAGG GRCh37
NC_000006.10:g.7528179_7528182delinsTAGG NCBI36
NG_008803.1:g.46311_46314delinsTAGG , LRG_423:g.46311_46314delinsTAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.4356_4359delinsTAGG ENSP00000518230.1:p.Leu1452=
ENST00000379802.8:c.5685_5688delinsTAGG MANE Select ENSP00000369129.3:p.Leu1895=
ENST00000379802.7:c.5685_5688delinsTAGG ENSP00000369129.3:p.Leu1895=
ENST00000418664.2:c.3888_3891delinsTAGG ENSP00000396591.2:p.Leu1296=
NM_001008844.1:c.3888_3891delinsTAGG NP_001008844.1:p.Leu1296=
NM_004415.2:c.5685_5688delinsTAGG , LRG_423t1:c.5685_5688delinsTAGG NP_004406.2:p.Leu1895=
XM_011514323.1:c.4356_4359delinsTAGG XP_011512625.1:p.Leu1452=
NM_001008844.2:c.3888_3891delinsTAGG NP_001008844.1:p.Leu1296=
NM_001319034.1:c.4356_4359delinsTAGG NP_001305963.1:p.Leu1452=
NM_004415.3:c.5685_5688delinsTAGG NP_004406.2:p.Leu1895=
NM_004415.4:c.5685_5688delinsTAGG MANE Select NP_004406.2:p.Leu1895=
NM_001008844.3:c.3888_3891delinsTAGG NP_001008844.1:p.Leu1296=
NM_001319034.2:c.4356_4359delinsTAGG NP_001305963.1:p.Leu1452=