Canonical Allele Identifier: CA626212697
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs1467509920
gnomAD v2: 17-39023393-CG-C
gnomAD v3: 17-40867141-CG-C
gnomAD v4: 17-40867141-CG-C
MyVariant Identifiers: chr17:g.39023394del (hg19) chr17:g.40867142del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867146del , CM000679.2:g.40867146del GRCh38
NC_000017.10:g.39023398del , CM000679.1:g.39023398del GRCh37
NC_000017.9:g.36276924del NCBI36
NG_008077.1:g.5069del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.45del MANE Select ENSP00000251643.4:p.Gly16AspfsTer11
ENST00000647902.1:c.45del ENSP00000497770.1:p.Gly16AspfsTer11
ENST00000251643.4:c.45del ENSP00000251643.4:p.Gly16AspfsTer11
NM_000223.3:c.45del NP_000214.1:p.Gly16AspfsTer11
XR_934754.1:n.1500+16286del
XR_934754.2:n.2008+16286del
NM_000223.4:c.45del MANE Select NP_000214.1:p.Gly16AspfsTer11
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