Canonical Allele Identifier: CA2677234968

Gene: DSP

Linked Data

• gnomAD v4: 6-7582991-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582996_7582997dup , CM000668.2:g.7582996_7582997dup	GRCh38
NC_000006.11:g.7583229_7583230dup , CM000668.1:g.7583229_7583230dup	GRCh37
NC_000006.10:g.7528228_7528229dup	NCBI36
NG_008803.1:g.46360_46361dup , LRG_423:g.46360_46361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4405_4406dup	ENSP00000518230.1:p.Cys1470GlyfsTer17
ENST00000379802.8:c.5734_5735dup MANE Select	ENSP00000369129.3:p.Cys1913GlyfsTer17
ENST00000379802.7:c.5734_5735dup	ENSP00000369129.3:p.Cys1913GlyfsTer17
ENST00000418664.2:c.3937_3938dup	ENSP00000396591.2:p.Cys1314GlyfsTer17
NM_001008844.1:c.3937_3938dup	NP_001008844.1:p.Cys1314GlyfsTer17
NM_004415.2:c.5734_5735dup , LRG_423t1:c.5734_5735dup	NP_004406.2:p.Cys1913GlyfsTer17
XM_011514323.1:c.4405_4406dup	XP_011512625.1:p.Cys1470GlyfsTer17
NM_001008844.2:c.3937_3938dup	NP_001008844.1:p.Cys1314GlyfsTer17
NM_001319034.1:c.4405_4406dup	NP_001305963.1:p.Cys1470GlyfsTer17
NM_004415.3:c.5734_5735dup	NP_004406.2:p.Cys1913GlyfsTer17
NM_004415.4:c.5734_5735dup MANE Select	NP_004406.2:p.Cys1913GlyfsTer17
NM_001008844.3:c.3937_3938dup	NP_001008844.1:p.Cys1314GlyfsTer17
NM_001319034.2:c.4405_4406dup	NP_001305963.1:p.Cys1470GlyfsTer17