Canonical Allele Identifier: CA16618329

Gene: DSP

Linked Data

• ClinVar Variation Id: 421616
• ClinVar RCV Id: RCV000479180 ; RCV001851213
• dbSNP Id: rs1554109247
• gnomAD v4: 6-7585701-A-AC
• MyVariant Identifiers: chr6:g.7585937dupC (hg19) ; chr6:g.7585704dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585704dup , CM000668.2:g.7585704dup	GRCh38
NC_000006.11:g.7585937dup , CM000668.1:g.7585937dup	GRCh37
NC_000006.10:g.7530936dup	NCBI36
NG_008803.1:g.49068dup , LRG_423:g.49068dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.7113dup	ENSP00000518230.1:p.Ser2372GlnfsTer?
ENST00000379802.8:c.8442dup MANE Select	ENSP00000369129.3:p.Ser2815GlnfsTer?
ENST00000379802.7:c.8442dup	ENSP00000369129.3:p.Ser2815GlnfsTer?
ENST00000418664.2:c.6645dup	ENSP00000396591.2:p.Ser2216GlnfsTer?
NM_001008844.1:c.6645dup	NP_001008844.1:p.Ser2216GlnfsTer?
NM_004415.2:c.8442dup , LRG_423t1:c.8442dup	NP_004406.2:p.Ser2815GlnfsTer?
XM_011514323.1:c.7113dup	XP_011512625.1:p.Ser2372GlnfsTer?
NM_001008844.2:c.6645dup	NP_001008844.1:p.Ser2216GlnfsTer?
NM_001319034.1:c.7113dup	NP_001305963.1:p.Ser2372GlnfsTer?
NM_004415.3:c.8442dup	NP_004406.2:p.Ser2815GlnfsTer?
NM_004415.4:c.8442dup MANE Select	NP_004406.2:p.Ser2815GlnfsTer?
NM_001008844.3:c.6645dup	NP_001008844.1:p.Ser2216GlnfsTer?
NM_001319034.2:c.7113dup	NP_001305963.1:p.Ser2372GlnfsTer?