Canonical Allele Identifier: CA1608613496

Gene: DSP

Linked Data

• dbSNP Id: rs1759605516
• gnomAD v4: 6-7585171-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585172dup , CM000668.2:g.7585172dup	GRCh38
NC_000006.11:g.7585405dup , CM000668.1:g.7585405dup	GRCh37
NC_000006.10:g.7530404dup	NCBI36
NG_008803.1:g.48536dup , LRG_423:g.48536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6581dup	ENSP00000518230.1:p.Glu2195ArgfsTer6
ENST00000379802.8:c.7910dup MANE Select	ENSP00000369129.3:p.Glu2638ArgfsTer6
ENST00000379802.7:c.7910dup	ENSP00000369129.3:p.Glu2638ArgfsTer6
ENST00000418664.2:c.6113dup	ENSP00000396591.2:p.Glu2039ArgfsTer6
NM_001008844.1:c.6113dup	NP_001008844.1:p.Glu2039ArgfsTer6
NM_004415.2:c.7910dup , LRG_423t1:c.7910dup	NP_004406.2:p.Glu2638ArgfsTer6
XM_011514323.1:c.6581dup	XP_011512625.1:p.Glu2195ArgfsTer6
NM_001008844.2:c.6113dup	NP_001008844.1:p.Glu2039ArgfsTer6
NM_001319034.1:c.6581dup	NP_001305963.1:p.Glu2195ArgfsTer6
NM_004415.3:c.7910dup	NP_004406.2:p.Glu2638ArgfsTer6
NM_004415.4:c.7910dup MANE Select	NP_004406.2:p.Glu2638ArgfsTer6
NM_001008844.3:c.6113dup	NP_001008844.1:p.Glu2039ArgfsTer6
NM_001319034.2:c.6581dup	NP_001305963.1:p.Glu2195ArgfsTer6