Canonical Allele Identifier: CA2573140812

Gene: DSP

Linked Data

• ClinVar Variation Id: 1458955
• ClinVar RCV Id: RCV001958768
• dbSNP Id: rs2113699015

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583149dup , CM000668.2:g.7583149dup	GRCh38
NC_000006.11:g.7583382dup , CM000668.1:g.7583382dup	GRCh37
NC_000006.10:g.7528381dup	NCBI36
NG_008803.1:g.46513dup , LRG_423:g.46513dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4558dup	ENSP00000518230.1:p.Thr1520AsnfsTer7
ENST00000379802.8:c.5887dup MANE Select	ENSP00000369129.3:p.Thr1963AsnfsTer7
ENST00000379802.7:c.5887dup	ENSP00000369129.3:p.Thr1963AsnfsTer7
ENST00000418664.2:c.4090dup	ENSP00000396591.2:p.Thr1364AsnfsTer7
NM_001008844.1:c.4090dup	NP_001008844.1:p.Thr1364AsnfsTer7
NM_004415.2:c.5887dup , LRG_423t1:c.5887dup	NP_004406.2:p.Thr1963AsnfsTer7
XM_011514323.1:c.4558dup	XP_011512625.1:p.Thr1520AsnfsTer7
NM_001008844.2:c.4090dup	NP_001008844.1:p.Thr1364AsnfsTer7
NM_001319034.1:c.4558dup	NP_001305963.1:p.Thr1520AsnfsTer7
NM_004415.3:c.5887dup	NP_004406.2:p.Thr1963AsnfsTer7
NM_004415.4:c.5887dup MANE Select	NP_004406.2:p.Thr1963AsnfsTer7
NM_001008844.3:c.4090dup	NP_001008844.1:p.Thr1364AsnfsTer7
NM_001319034.2:c.4558dup	NP_001305963.1:p.Thr1520AsnfsTer7