Canonical Allele Identifier: CA2573140811

Gene: DSP

Linked Data

• ClinVar Variation Id: 1451660
• ClinVar RCV Id: RCV001993305
• dbSNP Id: rs2113698912

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583112_7583113delinsAT , CM000668.2:g.7583112_7583113delinsAT	GRCh38
NC_000006.11:g.7583345_7583346delinsAT , CM000668.1:g.7583345_7583346delinsAT	GRCh37
NC_000006.10:g.7528344_7528345delinsAT	NCBI36
NG_008803.1:g.46476_46477delinsAT , LRG_423:g.46476_46477delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4521_4522delinsAT	ENSP00000518230.1:p.His1507GlnfsTer2
ENST00000379802.8:c.5850_5851delinsAT MANE Select	ENSP00000369129.3:p.His1950GlnfsTer2
ENST00000379802.7:c.5850_5851delinsAT	ENSP00000369129.3:p.His1950GlnfsTer2
ENST00000418664.2:c.4053_4054delinsAT	ENSP00000396591.2:p.His1351GlnfsTer2
NM_001008844.1:c.4053_4054delinsAT	NP_001008844.1:p.His1351GlnfsTer2
NM_004415.2:c.5850_5851delinsAT , LRG_423t1:c.5850_5851delinsAT	NP_004406.2:p.His1950GlnfsTer2
XM_011514323.1:c.4521_4522delinsAT	XP_011512625.1:p.His1507GlnfsTer2
NM_001008844.2:c.4053_4054delinsAT	NP_001008844.1:p.His1351GlnfsTer2
NM_001319034.1:c.4521_4522delinsAT	NP_001305963.1:p.His1507GlnfsTer2
NM_004415.3:c.5850_5851delinsAT	NP_004406.2:p.His1950GlnfsTer2
NM_004415.4:c.5850_5851delinsAT MANE Select	NP_004406.2:p.His1950GlnfsTer2
NM_001008844.3:c.4053_4054delinsAT	NP_001008844.1:p.His1351GlnfsTer2
NM_001319034.2:c.4521_4522delinsAT	NP_001305963.1:p.His1507GlnfsTer2