Canonical Allele Identifier: CA626212695
Gene: KRT12 HGNC NCBI

Linked Data

dbSNP Id: rs1282091069
gnomAD v2: 17-39023343-GC-G
gnomAD v3: 17-40867091-GC-G
gnomAD v4: 17-40867091-GC-G
MyVariant Identifiers: chr17:g.39023344del (hg19) chr17:g.40867092del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867095del , CM000679.2:g.40867095del GRCh38
NC_000017.10:g.39023347del , CM000679.1:g.39023347del GRCh37
NC_000017.9:g.36276873del NCBI36
NG_008077.1:g.5119del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.95del MANE Select ENSP00000251643.4:p.Gly32AlafsTer?
ENST00000647902.1:c.95del ENSP00000497770.1:p.Gly32AlafsTer?
ENST00000251643.4:c.95del ENSP00000251643.4:p.Gly32AlafsTer?
NM_000223.3:c.95del NP_000214.1:p.Gly32AlafsTer?
XR_934754.1:n.1500+16235del
XR_934754.2:n.2008+16235del
NM_000223.4:c.95del MANE Select NP_000214.1:p.Gly32AlafsTer?
Search 100 bp 5'
Search 100 bp 3'