Canonical Allele Identifier: CA771949657
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs1470590781
gnomAD v4: 17-40867168-TG-T
MyVariant Identifiers: chr17:g.39023421del (hg19) chr17:g.40867169del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867169del , CM000679.2:g.40867169del GRCh38
NC_000017.10:g.39023421del , CM000679.1:g.39023421del GRCh37
NC_000017.9:g.36276947del NCBI36
NG_008077.1:g.5042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.18del MANE Select ENSP00000251643.4:p.Asn6LysfsTer21
ENST00000647902.1:c.18del ENSP00000497770.1:p.Asn6LysfsTer21
ENST00000251643.4:c.18del ENSP00000251643.4:p.Asn6LysfsTer21
NM_000223.3:c.18del NP_000214.1:p.Asn6LysfsTer21
XR_934754.1:n.1500+16309del
XR_934754.2:n.2008+16309del
NM_000223.4:c.18del MANE Select NP_000214.1:p.Asn6LysfsTer21
Search 100 bp 5'
Search 100 bp 3'