Canonical Allele Identifier: CA133968147

Gene: DSP

Linked Data

• dbSNP Id: rs879268653
• MyVariant Identifiers: chr6:g.7579663del (hg19) ; chr6:g.7579430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579431del , CM000668.2:g.7579431del	GRCh38
NC_000006.11:g.7579664del , CM000668.1:g.7579664del	GRCh37
NC_000006.10:g.7524663del	NCBI36
NG_008803.1:g.42795del , LRG_423:g.42795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3241del	ENSP00000518230.1:p.Glu1081SerfsTer2
ENST00000379802.8:c.3241del MANE Select	ENSP00000369129.3:p.Glu1081SerfsTer2
ENST00000379802.7:c.3241del	ENSP00000369129.3:p.Glu1081SerfsTer2
ENST00000418664.2:c.3241del	ENSP00000396591.2:p.Glu1081SerfsTer2
NM_001008844.1:c.3241del	NP_001008844.1:p.Glu1081SerfsTer2
NM_004415.2:c.3241del , LRG_423t1:c.3241del	NP_004406.2:p.Glu1081SerfsTer2
XM_011514323.1:c.3241del	XP_011512625.1:p.Glu1081SerfsTer2
NM_001008844.2:c.3241del	NP_001008844.1:p.Glu1081SerfsTer2
NM_001319034.1:c.3241del	NP_001305963.1:p.Glu1081SerfsTer2
NM_004415.3:c.3241del	NP_004406.2:p.Glu1081SerfsTer2
NM_004415.4:c.3241del MANE Select	NP_004406.2:p.Glu1081SerfsTer2
NM_001008844.3:c.3241del	NP_001008844.1:p.Glu1081SerfsTer2
NM_001319034.2:c.3241del	NP_001305963.1:p.Glu1081SerfsTer2