Canonical Allele Identifier: CA2580075383

Gene: DSP

Linked Data

• ClinVar Variation Id: 1760604
• ClinVar RCV Id: RCV002409823

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585042dup , CM000668.2:g.7585042dup	GRCh38
NC_000006.11:g.7585275dup , CM000668.1:g.7585275dup	GRCh37
NC_000006.10:g.7530274dup	NCBI36
NG_008803.1:g.48406dup , LRG_423:g.48406dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6451dup	ENSP00000518230.1:p.Ser2151PhefsTer?
ENST00000379802.8:c.7780dup MANE Select	ENSP00000369129.3:p.Ser2594PhefsTer?
ENST00000379802.7:c.7780dup	ENSP00000369129.3:p.Ser2594PhefsTer?
ENST00000418664.2:c.5983dup	ENSP00000396591.2:p.Ser1995PhefsTer?
NM_001008844.1:c.5983dup	NP_001008844.1:p.Ser1995PhefsTer?
NM_004415.2:c.7780dup , LRG_423t1:c.7780dup	NP_004406.2:p.Ser2594PhefsTer?
XM_011514323.1:c.6451dup	XP_011512625.1:p.Ser2151PhefsTer?
NM_001008844.2:c.5983dup	NP_001008844.1:p.Ser1995PhefsTer?
NM_001319034.1:c.6451dup	NP_001305963.1:p.Ser2151PhefsTer?
NM_004415.3:c.7780dup	NP_004406.2:p.Ser2594PhefsTer?
NM_004415.4:c.7780dup MANE Select	NP_004406.2:p.Ser2594PhefsTer?
NM_001008844.3:c.5983dup	NP_001008844.1:p.Ser1995PhefsTer?
NM_001319034.2:c.6451dup	NP_001305963.1:p.Ser2151PhefsTer?