Canonical Allele Identifier: CA2637772800
Gene: KRT12 HGNC NCBI

Linked Data

gnomAD v4: 17-40867155-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867156del , CM000679.2:g.40867156del GRCh38
NC_000017.10:g.39023408del , CM000679.1:g.39023408del GRCh37
NC_000017.9:g.36276934del NCBI36
NG_008077.1:g.5055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.31del MANE Select ENSP00000251643.4:p.Ser11GlnfsTer16
ENST00000647902.1:c.31del ENSP00000497770.1:p.Ser11GlnfsTer16
ENST00000251643.4:c.31del ENSP00000251643.4:p.Ser11GlnfsTer16
NM_000223.3:c.31del NP_000214.1:p.Ser11GlnfsTer16
XR_934754.1:n.1500+16296del
XR_934754.2:n.2008+16296del
NM_000223.4:c.31del MANE Select NP_000214.1:p.Ser11GlnfsTer16
Search 100 bp 5'
Search 100 bp 3'