Canonical Allele Identifier: CA1608614491
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579686_7579689delinsGAGA , CM000668.2:g.7579686_7579689delinsGAGA GRCh38
NC_000006.11:g.7579919_7579922delinsGAGA , CM000668.1:g.7579919_7579922delinsGAGA GRCh37
NC_000006.10:g.7524918_7524921delinsGAGA NCBI36
NG_008803.1:g.43050_43053delinsGAGA , LRG_423:g.43050_43053delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3496_3499delinsGAGA ENSP00000518230.1:p.Glu1166=
ENST00000379802.8:c.3496_3499delinsGAGA MANE Select ENSP00000369129.3:p.Glu1166=
ENST00000379802.7:c.3496_3499delinsGAGA ENSP00000369129.3:p.Glu1166=
ENST00000418664.2:c.3496_3499delinsGAGA ENSP00000396591.2:p.Glu1166=
NM_001008844.1:c.3496_3499delinsGAGA NP_001008844.1:p.Glu1166=
NM_004415.2:c.3496_3499delinsGAGA , LRG_423t1:c.3496_3499delinsGAGA NP_004406.2:p.Glu1166=
XM_011514323.1:c.3496_3499delinsGAGA XP_011512625.1:p.Glu1166=
NM_001008844.2:c.3496_3499delinsGAGA NP_001008844.1:p.Glu1166=
NM_001319034.1:c.3496_3499delinsGAGA NP_001305963.1:p.Glu1166=
NM_004415.3:c.3496_3499delinsGAGA NP_004406.2:p.Glu1166=
NM_004415.4:c.3496_3499delinsGAGA MANE Select NP_004406.2:p.Glu1166=
NM_001008844.3:c.3496_3499delinsGAGA NP_001008844.1:p.Glu1166=
NM_001319034.2:c.3496_3499delinsGAGA NP_001305963.1:p.Glu1166=