Canonical Allele Identifier: CA2637772729

Gene: KRT12

Linked Data

• gnomAD v4: 17-40866989-ACTAGAACCAAACATGGAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40866991_40867009del , CM000679.2:g.40866991_40867009del	GRCh38
NC_000017.10:g.39023243_39023261del , CM000679.1:g.39023243_39023261del	GRCh37
NC_000017.9:g.36276769_36276787del	NCBI36
NG_008077.1:g.5203_5221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251643.5:c.179_197del MANE Select	ENSP00000251643.4:p.Ala60ValfsTer?
ENST00000647902.1:c.179_197del	ENSP00000497770.1:p.Ala60ValfsTer9
ENST00000251643.4:c.179_197del	ENSP00000251643.4:p.Ala60ValfsTer?
NM_000223.3:c.179_197del	NP_000214.1:p.Ala60ValfsTer?
XR_934754.1:n.1500+16131_1500+16149del
XR_934754.2:n.2008+16131_2008+16149del
NM_000223.4:c.179_197del MANE Select	NP_000214.1:p.Ala60ValfsTer?