Canonical Allele Identifier: CA2637772728

Gene: KRT12

Linked Data

• gnomAD v4: 17-40866974-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40866979del , CM000679.2:g.40866979del	GRCh38
NC_000017.10:g.39023231del , CM000679.1:g.39023231del	GRCh37
NC_000017.9:g.36276757del	NCBI36
NG_008077.1:g.5236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251643.5:c.212del MANE Select	ENSP00000251643.4:p.Gly71ValfsTer?
ENST00000647902.1:c.211+1del
ENST00000251643.4:c.212del	ENSP00000251643.4:p.Gly71ValfsTer?
NM_000223.3:c.212del	NP_000214.1:p.Gly71ValfsTer?
XR_934754.1:n.1500+16119del
XR_934754.2:n.2008+16119del
NM_000223.4:c.212del MANE Select	NP_000214.1:p.Gly71ValfsTer?