Canonical Allele Identifier: CA1085706931

Gene: DSP

Linked Data

• dbSNP Id: rs1759609710
• gnomAD v3: 6-7585223-AG-A
• gnomAD v4: 6-7585223-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585225del , CM000668.2:g.7585225del	GRCh38
NC_000006.11:g.7585458del , CM000668.1:g.7585458del	GRCh37
NC_000006.10:g.7530457del	NCBI36
NG_008803.1:g.48589del , LRG_423:g.48589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6634del	ENSP00000518230.1:p.Ala2212ProfsTer25
ENST00000379802.8:c.7963del MANE Select	ENSP00000369129.3:p.Ala2655ProfsTer25
ENST00000379802.7:c.7963del	ENSP00000369129.3:p.Ala2655ProfsTer25
ENST00000418664.2:c.6166del	ENSP00000396591.2:p.Ala2056ProfsTer25
NM_001008844.1:c.6166del	NP_001008844.1:p.Ala2056ProfsTer25
NM_004415.2:c.7963del , LRG_423t1:c.7963del	NP_004406.2:p.Ala2655ProfsTer25
XM_011514323.1:c.6634del	XP_011512625.1:p.Ala2212ProfsTer25
NM_001008844.2:c.6166del	NP_001008844.1:p.Ala2056ProfsTer25
NM_001319034.1:c.6634del	NP_001305963.1:p.Ala2212ProfsTer25
NM_004415.3:c.7963del	NP_004406.2:p.Ala2655ProfsTer25
NM_004415.4:c.7963del MANE Select	NP_004406.2:p.Ala2655ProfsTer25
NM_001008844.3:c.6166del	NP_001008844.1:p.Ala2056ProfsTer25
NM_001319034.2:c.6634del	NP_001305963.1:p.Ala2212ProfsTer25