Canonical Allele Identifier: CA045664

Gene: DSP

Linked Data

• dbSNP Id: rs762096328
• ExAC: 6:7583258 CA / C
• gnomAD v2: 6-7583258-CA-C
• MyVariant Identifiers: chr6:g.7583259del (hg19) ; chr6:g.7583026del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583026del , CM000668.2:g.7583026del	GRCh38
NC_000006.11:g.7583259del , CM000668.1:g.7583259del	GRCh37
NC_000006.10:g.7528258del	NCBI36
NG_008803.1:g.46390del , LRG_423:g.46390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4435del	ENSP00000518230.1:p.Arg1479GlyfsTer7
ENST00000379802.8:c.5764del MANE Select	ENSP00000369129.3:p.Arg1922GlyfsTer7
ENST00000379802.7:c.5764del	ENSP00000369129.3:p.Arg1922GlyfsTer7
ENST00000418664.2:c.3967del	ENSP00000396591.2:p.Arg1323GlyfsTer7
NM_001008844.1:c.3967del	NP_001008844.1:p.Arg1323GlyfsTer7
NM_004415.2:c.5764del , LRG_423t1:c.5764del	NP_004406.2:p.Arg1922GlyfsTer7
XM_011514323.1:c.4435del	XP_011512625.1:p.Arg1479GlyfsTer7
NM_001008844.2:c.3967del	NP_001008844.1:p.Arg1323GlyfsTer7
NM_001319034.1:c.4435del	NP_001305963.1:p.Arg1479GlyfsTer7
NM_004415.3:c.5764del	NP_004406.2:p.Arg1922GlyfsTer7
NM_004415.4:c.5764del MANE Select	NP_004406.2:p.Arg1922GlyfsTer7
NM_001008844.3:c.3967del	NP_001008844.1:p.Arg1323GlyfsTer7
NM_001319034.2:c.4435del	NP_001305963.1:p.Arg1479GlyfsTer7