Canonical Allele Identifier: CA303946

Gene: DSP

Linked Data

• ClinVar Variation Id: 199928
• ClinVar RCV Id: RCV000181372 ; RCV003765112
• dbSNP Id: rs794728149
• MyVariant Identifiers: chr6:g.7585368dupA (hg19) ; chr6:g.7585135dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585135dup , CM000668.2:g.7585135dup	GRCh38
NC_000006.11:g.7585368dup , CM000668.1:g.7585368dup	GRCh37
NC_000006.10:g.7530367dup	NCBI36
NG_008803.1:g.48499dup , LRG_423:g.48499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6544dup	ENSP00000518230.1:p.Thr2182AsnfsTer19
ENST00000379802.8:c.7873dup MANE Select	ENSP00000369129.3:p.Thr2625AsnfsTer19
ENST00000379802.7:c.7873dup	ENSP00000369129.3:p.Thr2625AsnfsTer19
ENST00000418664.2:c.6076dup	ENSP00000396591.2:p.Thr2026AsnfsTer19
NM_001008844.1:c.6076dup	NP_001008844.1:p.Thr2026AsnfsTer19
NM_004415.2:c.7873dup , LRG_423t1:c.7873dup	NP_004406.2:p.Thr2625AsnfsTer19
XM_011514323.1:c.6544dup	XP_011512625.1:p.Thr2182AsnfsTer19
NM_001008844.2:c.6076dup	NP_001008844.1:p.Thr2026AsnfsTer19
NM_001319034.1:c.6544dup	NP_001305963.1:p.Thr2182AsnfsTer19
NM_004415.3:c.7873dup	NP_004406.2:p.Thr2625AsnfsTer19
NM_004415.4:c.7873dup MANE Select	NP_004406.2:p.Thr2625AsnfsTer19
NM_001008844.3:c.6076dup	NP_001008844.1:p.Thr2026AsnfsTer19
NM_001319034.2:c.6544dup	NP_001305963.1:p.Thr2182AsnfsTer19