Canonical Allele Identifier: CA8562599

Gene: KRT14

Linked Data

• dbSNP Id: rs760721828
• ExAC: 17:39740111 AG / A
• gnomAD v2: 17-39740111-AG-A
• gnomAD v3: 17-41583859-AG-A
• gnomAD v4: 17-41583859-AG-A
• MyVariant Identifiers: chr17:g.39740112del (hg19) ; chr17:g.41583860del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583861del , CM000679.2:g.41583861del	GRCh38
NC_000017.10:g.39740113del , CM000679.1:g.39740113del	GRCh37
NC_000017.9:g.36993639del	NCBI36
NG_008624.1:g.8036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.827del MANE Select	ENSP00000167586.6:p.Pro276LeufsTer5
ENST00000167586.6:c.827del	ENSP00000167586.6:p.Pro276LeufsTer5
ENST00000476662.1:n.277del
NM_000526.4:c.827del	NP_000517.2:p.Pro276LeufsTer5
NM_000526.5:c.827del MANE Select	NP_000517.3:p.Pro276LeufsTer5