Canonical Allele Identifier: CA1608613526

Gene: DSP

Linked Data

• dbSNP Id: rs1759341383

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579317_7579318insCAATGTGCAT , CM000668.2:g.7579317_7579318insCAATGTGCAT	GRCh38
NC_000006.11:g.7579550_7579551insCAATGTGCAT , CM000668.1:g.7579550_7579551insCAATGTGCAT	GRCh37
NC_000006.10:g.7524549_7524550insCAATGTGCAT	NCBI36
NG_008803.1:g.42681_42682insCAATGTGCAT , LRG_423:g.42681_42682insCAATGTGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3127_3128insCAATGTGCAT	ENSP00000518230.1:p.Leu1043ProfsTer14
ENST00000379802.8:c.3127_3128insCAATGTGCAT MANE Select	ENSP00000369129.3:p.Leu1043ProfsTer14
ENST00000379802.7:c.3127_3128insCAATGTGCAT	ENSP00000369129.3:p.Leu1043ProfsTer14
ENST00000418664.2:c.3127_3128insCAATGTGCAT	ENSP00000396591.2:p.Leu1043ProfsTer14
NM_001008844.1:c.3127_3128insCAATGTGCAT	NP_001008844.1:p.Leu1043ProfsTer14
NM_004415.2:c.3127_3128insCAATGTGCAT , LRG_423t1:c.3127_3128insCAATGTGCAT	NP_004406.2:p.Leu1043ProfsTer14
XM_011514323.1:c.3127_3128insCAATGTGCAT	XP_011512625.1:p.Leu1043ProfsTer14
NM_001008844.2:c.3127_3128insCAATGTGCAT	NP_001008844.1:p.Leu1043ProfsTer14
NM_001319034.1:c.3127_3128insCAATGTGCAT	NP_001305963.1:p.Leu1043ProfsTer14
NM_004415.3:c.3127_3128insCAATGTGCAT	NP_004406.2:p.Leu1043ProfsTer14
NM_004415.4:c.3127_3128insCAATGTGCAT MANE Select	NP_004406.2:p.Leu1043ProfsTer14
NM_001008844.3:c.3127_3128insCAATGTGCAT	NP_001008844.1:p.Leu1043ProfsTer14
NM_001319034.2:c.3127_3128insCAATGTGCAT	NP_001305963.1:p.Leu1043ProfsTer14