Canonical Allele Identifier: CA124151

Gene: KRT10

Linked Data

• ClinVar Variation Id: 14584
• ClinVar RCV Id: RCV000015685 ; RCV000056488
• dbSNP Id: rs267607384
• MyVariant Identifiers: chr17:g.38975226_38975227del (hg19) ; chr17:g.40818974_40818975del (hg38)
• PubMed: PMID:20798280

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40818975_40818976del , CM000679.2:g.40818975_40818976del	GRCh38
NC_000017.10:g.38975227_38975228del , CM000679.1:g.38975227_38975228del	GRCh37
NC_000017.9:g.36228753_36228754del	NCBI36
NG_008405.1:g.8637_8638del
NG_033147.1:g.4884_4885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269576.6:c.1560_1561del MANE Select	ENSP00000269576.5:p.Gly521ProfsTer?
ENST00000635956.2:c.1560_1561del	ENSP00000490524.2:p.Gly521ProfsTer?
ENST00000269576.5:c.1560_1561del	ENSP00000269576.5:p.Gly521ProfsTer?
NM_000421.3:c.1560_1561del	NP_000412.3:p.Gly521ProfsTer?
XM_005257343.2:c.1560_1561del	XP_005257400.1:p.Gly521ProfsTer?
XM_005257343.3:c.1560_1561del	XP_005257400.1:p.Gly521ProfsTer?
NM_000421.4:c.1560_1561del	NP_000412.3:p.Gly521ProfsTer?
NM_000421.5:c.1560_1561del MANE Select	NP_000412.4:p.Gly521ProfsTer?
NM_001379366.1:c.1560_1561del	NP_001366295.1:p.Gly521ProfsTer?