Canonical Allele Identifier: CA2578524530

Gene: DSP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584918_7584919dup , CM000668.2:g.7584918_7584919dup	GRCh38
NC_000006.11:g.7585151_7585152dup , CM000668.1:g.7585151_7585152dup	GRCh37
NC_000006.10:g.7530150_7530151dup	NCBI36
NG_008803.1:g.48282_48283dup , LRG_423:g.48282_48283dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6327_6328dup	ENSP00000518230.1:p.Ser2110ThrfsTer9
ENST00000379802.8:c.7656_7657dup MANE Select	ENSP00000369129.3:p.Ser2553ThrfsTer9
ENST00000379802.7:c.7656_7657dup	ENSP00000369129.3:p.Ser2553ThrfsTer9
ENST00000418664.2:c.5859_5860dup	ENSP00000396591.2:p.Ser1954ThrfsTer9
NM_001008844.1:c.5859_5860dup	NP_001008844.1:p.Ser1954ThrfsTer9
NM_004415.2:c.7656_7657dup , LRG_423t1:c.7656_7657dup	NP_004406.2:p.Ser2553ThrfsTer9
XM_011514323.1:c.6327_6328dup	XP_011512625.1:p.Ser2110ThrfsTer9
NM_001008844.2:c.5859_5860dup	NP_001008844.1:p.Ser1954ThrfsTer9
NM_001319034.1:c.6327_6328dup	NP_001305963.1:p.Ser2110ThrfsTer9
NM_004415.3:c.7656_7657dup	NP_004406.2:p.Ser2553ThrfsTer9
NM_004415.4:c.7656_7657dup MANE Select	NP_004406.2:p.Ser2553ThrfsTer9
NM_001008844.3:c.5859_5860dup	NP_001008844.1:p.Ser1954ThrfsTer9
NM_001319034.2:c.6327_6328dup	NP_001305963.1:p.Ser2110ThrfsTer9