Canonical Allele Identifier: CA1608611146
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7584429_7584431delinsCAT , CM000668.2:g.7584429_7584431delinsCAT GRCh38
NC_000006.11:g.7584662_7584664delinsCAT , CM000668.1:g.7584662_7584664delinsCAT GRCh37
NC_000006.10:g.7529661_7529663delinsCAT NCBI36
NG_008803.1:g.47793_47795delinsCAT , LRG_423:g.47793_47795delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.5838_5840delinsCAT ENSP00000518230.1:p.Asp1946=
ENST00000379802.8:c.7167_7169delinsCAT MANE Select ENSP00000369129.3:p.Asp2389=
ENST00000379802.7:c.7167_7169delinsCAT ENSP00000369129.3:p.Asp2389=
ENST00000418664.2:c.5370_5372delinsCAT ENSP00000396591.2:p.Asp1790=
NM_001008844.1:c.5370_5372delinsCAT NP_001008844.1:p.Asp1790=
NM_004415.2:c.7167_7169delinsCAT , LRG_423t1:c.7167_7169delinsCAT NP_004406.2:p.Asp2389=
XM_011514323.1:c.5838_5840delinsCAT XP_011512625.1:p.Asp1946=
NM_001008844.2:c.5370_5372delinsCAT NP_001008844.1:p.Asp1790=
NM_001319034.1:c.5838_5840delinsCAT NP_001305963.1:p.Asp1946=
NM_004415.3:c.7167_7169delinsCAT NP_004406.2:p.Asp2389=
NM_004415.4:c.7167_7169delinsCAT MANE Select NP_004406.2:p.Asp2389=
NM_001008844.3:c.5370_5372delinsCAT NP_001008844.1:p.Asp1790=
NM_001319034.2:c.5838_5840delinsCAT NP_001305963.1:p.Asp1946=