Canonical Allele Identifier: CA2740094264

Gene: DSP

Linked Data

• ClinVar Variation Id: 2950113
• ClinVar RCV Id: RCV003807471 ; RCV004006072

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584476_7584479del , CM000668.2:g.7584476_7584479del	GRCh38
NC_000006.11:g.7584709_7584712del , CM000668.1:g.7584709_7584712del	GRCh37
NC_000006.10:g.7529708_7529711del	NCBI36
NG_008803.1:g.47840_47843del , LRG_423:g.47840_47843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5885_5888del	ENSP00000518230.1:p.Leu1962GlnfsTer24
ENST00000379802.8:c.7214_7217del MANE Select	ENSP00000369129.3:p.Leu2405GlnfsTer24
ENST00000379802.7:c.7214_7217del	ENSP00000369129.3:p.Leu2405GlnfsTer24
ENST00000418664.2:c.5417_5420del	ENSP00000396591.2:p.Leu1806GlnfsTer24
NM_001008844.1:c.5417_5420del	NP_001008844.1:p.Leu1806GlnfsTer24
NM_004415.2:c.7214_7217del , LRG_423t1:c.7214_7217del	NP_004406.2:p.Leu2405GlnfsTer24
XM_011514323.1:c.5885_5888del	XP_011512625.1:p.Leu1962GlnfsTer24
NM_001008844.2:c.5417_5420del	NP_001008844.1:p.Leu1806GlnfsTer24
NM_001319034.1:c.5885_5888del	NP_001305963.1:p.Leu1962GlnfsTer24
NM_004415.3:c.7214_7217del	NP_004406.2:p.Leu2405GlnfsTer24
NM_004415.4:c.7214_7217del MANE Select	NP_004406.2:p.Leu2405GlnfsTer24
NM_001008844.3:c.5417_5420del	NP_001008844.1:p.Leu1806GlnfsTer24
NM_001319034.2:c.5885_5888del	NP_001305963.1:p.Leu1962GlnfsTer24