Canonical Allele Identifier: CA658796712

Gene: DSP

Linked Data

• ClinVar Variation Id: 503944
• ClinVar RCV Id: RCV000599270
• dbSNP Id: rs1554108170
• MyVariant Identifiers: chr6:g.7580211_7580212dup (hg19) ; chr6:g.7579978_7579979dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7579978_7579979dup , CM000668.2:g.7579978_7579979dup	GRCh38
NC_000006.11:g.7580211_7580212dup , CM000668.1:g.7580211_7580212dup	GRCh37
NC_000006.10:g.7525210_7525211dup	NCBI36
NG_008803.1:g.43342_43343dup , LRG_423:g.43342_43343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.3788_3789dup	ENSP00000518230.1:p.Thr1264ProfsTer22
ENST00000379802.8:c.3788_3789dup MANE Select	ENSP00000369129.3:p.Thr1264ProfsTer22
ENST00000379802.7:c.3788_3789dup	ENSP00000369129.3:p.Thr1264ProfsTer22
ENST00000418664.2:c.3582+206_3582+207dup	ENSP00000396591.2:n.3582+206_3582+207dup
NM_001008844.1:c.3582+206_3582+207dup	NP_001008844.1:n.3582+206_3582+207dup
NM_004415.2:c.3788_3789dup , LRG_423t1:c.3788_3789dup	NP_004406.2:p.Thr1264ProfsTer22
XM_011514323.1:c.3788_3789dup	XP_011512625.1:p.Thr1264ProfsTer22
NM_001008844.2:c.3582+206_3582+207dup	NP_001008844.1:n.3582+206_3582+207dup
NM_001319034.1:c.3788_3789dup	NP_001305963.1:p.Thr1264ProfsTer22
NM_004415.3:c.3788_3789dup	NP_004406.2:p.Thr1264ProfsTer22
NM_004415.4:c.3788_3789dup MANE Select	NP_004406.2:p.Thr1264ProfsTer22
NM_001008844.3:c.3582+206_3582+207dup	NP_001008844.1:n.3582+206_3582+207dup
NM_001319034.2:c.3788_3789dup	NP_001305963.1:p.Thr1264ProfsTer22