Canonical Allele Identifier: CA2580075533

Gene: DSP

Linked Data

• ClinVar Variation Id: 1948123
• ClinVar RCV Id: RCV002663833

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583347dup , CM000668.2:g.7583347dup	GRCh38
NC_000006.11:g.7583580dup , CM000668.1:g.7583580dup	GRCh37
NC_000006.10:g.7528579dup	NCBI36
NG_008803.1:g.46711dup , LRG_423:g.46711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4756dup	ENSP00000518230.1:p.Tyr1586LeufsTer?
ENST00000379802.8:c.6085dup MANE Select	ENSP00000369129.3:p.Tyr2029LeufsTer?
ENST00000379802.7:c.6085dup	ENSP00000369129.3:p.Tyr2029LeufsTer?
ENST00000418664.2:c.4288dup	ENSP00000396591.2:p.Tyr1430LeufsTer?
NM_001008844.1:c.4288dup	NP_001008844.1:p.Tyr1430LeufsTer?
NM_004415.2:c.6085dup , LRG_423t1:c.6085dup	NP_004406.2:p.Tyr2029LeufsTer?
XM_011514323.1:c.4756dup	XP_011512625.1:p.Tyr1586LeufsTer?
NM_001008844.2:c.4288dup	NP_001008844.1:p.Tyr1430LeufsTer?
NM_001319034.1:c.4756dup	NP_001305963.1:p.Tyr1586LeufsTer?
NM_004415.3:c.6085dup	NP_004406.2:p.Tyr2029LeufsTer?
NM_004415.4:c.6085dup MANE Select	NP_004406.2:p.Tyr2029LeufsTer?
NM_001008844.3:c.4288dup	NP_001008844.1:p.Tyr1430LeufsTer?
NM_001319034.2:c.4756dup	NP_001305963.1:p.Tyr1586LeufsTer?