Canonical Allele Identifier: CA645369437

Gene: DSP

Linked Data

• ClinVar Variation Id: 429740
• ClinVar RCV Id: RCV000494013 ; RCV004003484
• dbSNP Id: rs1131691561
• MyVariant Identifiers: chr6:g.7585394dup (hg19) ; chr6:g.7585161dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585161dup , CM000668.2:g.7585161dup	GRCh38
NC_000006.11:g.7585394dup , CM000668.1:g.7585394dup	GRCh37
NC_000006.10:g.7530393dup	NCBI36
NG_008803.1:g.48525dup , LRG_423:g.48525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6570dup	ENSP00000518230.1:p.Thr2191TyrfsTer10
ENST00000379802.8:c.7899dup MANE Select	ENSP00000369129.3:p.Thr2634TyrfsTer10
ENST00000379802.7:c.7899dup	ENSP00000369129.3:p.Thr2634TyrfsTer10
ENST00000418664.2:c.6102dup	ENSP00000396591.2:p.Thr2035TyrfsTer10
NM_001008844.1:c.6102dup	NP_001008844.1:p.Thr2035TyrfsTer10
NM_004415.2:c.7899dup , LRG_423t1:c.7899dup	NP_004406.2:p.Thr2634TyrfsTer10
XM_011514323.1:c.6570dup	XP_011512625.1:p.Thr2191TyrfsTer10
NM_001008844.2:c.6102dup	NP_001008844.1:p.Thr2035TyrfsTer10
NM_001319034.1:c.6570dup	NP_001305963.1:p.Thr2191TyrfsTer10
NM_004415.3:c.7899dup	NP_004406.2:p.Thr2634TyrfsTer10
NM_004415.4:c.7899dup MANE Select	NP_004406.2:p.Thr2634TyrfsTer10
NM_001008844.3:c.6102dup	NP_001008844.1:p.Thr2035TyrfsTer10
NM_001319034.2:c.6570dup	NP_001305963.1:p.Thr2191TyrfsTer10