Canonical Allele Identifier: CA915944151

Gene: DSP

Linked Data

• ClinVar Variation Id: 802189
• ClinVar RCV Id: RCV000987652
• dbSNP Id: rs1581816570

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7580081_7580084dup , CM000668.2:g.7580081_7580084dup	GRCh38
NC_000006.11:g.7580314_7580317dup , CM000668.1:g.7580314_7580317dup	GRCh37
NC_000006.10:g.7525313_7525316dup	NCBI36
NG_008803.1:g.43445_43448dup , LRG_423:g.43445_43448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3891_3894dup	ENSP00000518230.1:p.Met1299GlyfsTer7
ENST00000379802.8:c.3891_3894dup MANE Select	ENSP00000369129.3:p.Met1299GlyfsTer7
ENST00000379802.7:c.3891_3894dup	ENSP00000369129.3:p.Met1299GlyfsTer7
ENST00000418664.2:c.3582+309_3582+312dup	ENSP00000396591.2:n.3582+309_3582+312dup
NM_001008844.1:c.3582+309_3582+312dup	NP_001008844.1:n.3582+309_3582+312dup
NM_004415.2:c.3891_3894dup , LRG_423t1:c.3891_3894dup	NP_004406.2:p.Met1299GlyfsTer7
XM_011514323.1:c.3891_3894dup	XP_011512625.1:p.Met1299GlyfsTer7
NM_001008844.2:c.3582+309_3582+312dup	NP_001008844.1:n.3582+309_3582+312dup
NM_001319034.1:c.3891_3894dup	NP_001305963.1:p.Met1299GlyfsTer7
NM_004415.3:c.3891_3894dup	NP_004406.2:p.Met1299GlyfsTer7
NM_004415.4:c.3891_3894dup MANE Select	NP_004406.2:p.Met1299GlyfsTer7
NM_001008844.3:c.3582+309_3582+312dup	NP_001008844.1:n.3582+309_3582+312dup
NM_001319034.2:c.3891_3894dup	NP_001305963.1:p.Met1299GlyfsTer7