Canonical Allele Identifier: CA8548008

Gene: KRT10

Linked Data

• ClinVar Variation Id: 3055364
• ClinVar RCV Id: RCV003981229
• dbSNP Id: rs770927933
• ExAC: 17:38975292 AGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG / A
• gnomAD v2: 17-38975292-AGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG-A
• gnomAD v3: 17-40819040-AGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG-A
• gnomAD v4: 17-40819040-AGCCGCCGCCGGAACTGCCGCCGTGGCCGCCGCCGTG-A
• MyVariant Identifiers: chr17:g.38975293_38975328del (hg19) ; chr17:g.40819041_40819076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40819053_40819088del , CM000679.2:g.40819053_40819088del	GRCh38
NC_000017.10:g.38975305_38975340del , CM000679.1:g.38975305_38975340del	GRCh37
NC_000017.9:g.36228831_36228866del	NCBI36
NG_008405.1:g.8536_8571del
NG_033147.1:g.4962_4997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269576.6:c.1459_1494del MANE Select	ENSP00000269576.5:p.His487_Gly498del
ENST00000635956.2:c.1459_1494del	ENSP00000490524.2:p.His487_Gly498del
ENST00000269576.5:c.1459_1494del	ENSP00000269576.5:p.His487_Gly498del
NM_000421.3:c.1459_1494del	NP_000412.3:p.His487_Gly498del
XM_005257343.2:c.1459_1494del	XP_005257400.1:p.His487_Gly498del
XM_005257343.3:c.1459_1494del	XP_005257400.1:p.His487_Gly498del
NM_000421.4:c.1459_1494del	NP_000412.3:p.His487_Gly498del
NM_000421.5:c.1459_1494del MANE Select	NP_000412.4:p.His487_Gly498del
NM_001379366.1:c.1459_1494del	NP_001366295.1:p.His487_Gly498del