Canonical Allele Identifier: CA2580075539

Gene: DSP

Linked Data

• ClinVar Variation Id: 1752007
• ClinVar RCV Id: RCV002353714

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583432del , CM000668.2:g.7583432del	GRCh38
NC_000006.11:g.7583665del , CM000668.1:g.7583665del	GRCh37
NC_000006.10:g.7528664del	NCBI36
NG_008803.1:g.46796del , LRG_423:g.46796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4841del	ENSP00000518230.1:p.Gly1614ValfsTer2
ENST00000379802.8:c.6170del MANE Select	ENSP00000369129.3:p.Gly2057ValfsTer2
ENST00000379802.7:c.6170del	ENSP00000369129.3:p.Gly2057ValfsTer2
ENST00000418664.2:c.4373del	ENSP00000396591.2:p.Gly1458ValfsTer2
NM_001008844.1:c.4373del	NP_001008844.1:p.Gly1458ValfsTer2
NM_004415.2:c.6170del , LRG_423t1:c.6170del	NP_004406.2:p.Gly2057ValfsTer2
XM_011514323.1:c.4841del	XP_011512625.1:p.Gly1614ValfsTer2
NM_001008844.2:c.4373del	NP_001008844.1:p.Gly1458ValfsTer2
NM_001319034.1:c.4841del	NP_001305963.1:p.Gly1614ValfsTer2
NM_004415.3:c.6170del	NP_004406.2:p.Gly2057ValfsTer2
NM_004415.4:c.6170del MANE Select	NP_004406.2:p.Gly2057ValfsTer2
NM_001008844.3:c.4373del	NP_001008844.1:p.Gly1458ValfsTer2
NM_001319034.2:c.4841del	NP_001305963.1:p.Gly1614ValfsTer2