Canonical Allele Identifier: CA1085706702

Gene: DSP

Linked Data

• dbSNP Id: rs1759560985
• gnomAD v3: 6-7584429-CAT-C
• gnomAD v4: 6-7584429-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584431_7584432del , CM000668.2:g.7584431_7584432del	GRCh38
NC_000006.11:g.7584664_7584665del , CM000668.1:g.7584664_7584665del	GRCh37
NC_000006.10:g.7529663_7529664del	NCBI36
NG_008803.1:g.47795_47796del , LRG_423:g.47795_47796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.5840_5841del	ENSP00000518230.1:p.Ile1947SerfsTer3
ENST00000379802.8:c.7169_7170del MANE Select	ENSP00000369129.3:p.Ile2390SerfsTer3
ENST00000379802.7:c.7169_7170del	ENSP00000369129.3:p.Ile2390SerfsTer3
ENST00000418664.2:c.5372_5373del	ENSP00000396591.2:p.Ile1791SerfsTer3
NM_001008844.1:c.5372_5373del	NP_001008844.1:p.Ile1791SerfsTer3
NM_004415.2:c.7169_7170del , LRG_423t1:c.7169_7170del	NP_004406.2:p.Ile2390SerfsTer3
XM_011514323.1:c.5840_5841del	XP_011512625.1:p.Ile1947SerfsTer3
NM_001008844.2:c.5372_5373del	NP_001008844.1:p.Ile1791SerfsTer3
NM_001319034.1:c.5840_5841del	NP_001305963.1:p.Ile1947SerfsTer3
NM_004415.3:c.7169_7170del	NP_004406.2:p.Ile2390SerfsTer3
NM_004415.4:c.7169_7170del MANE Select	NP_004406.2:p.Ile2390SerfsTer3
NM_001008844.3:c.5372_5373del	NP_001008844.1:p.Ile1791SerfsTer3
NM_001319034.2:c.5840_5841del	NP_001305963.1:p.Ile1947SerfsTer3