Canonical Allele Identifier: CA8562720
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs750249908
ExAC: 17:39742659 AGGTC / A
gnomAD v2: 17-39742659-AGGTC-A
gnomAD v3: 17-41586407-AGGTC-A
gnomAD v4: 17-41586407-AGGTC-A
MyVariant Identifiers: chr17:g.39742660_39742663del (hg19) chr17:g.41586408_41586411del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586410_41586413del , CM000679.2:g.41586410_41586413del GRCh38
NC_000017.10:g.39742662_39742665del , CM000679.1:g.39742662_39742665del GRCh37
NC_000017.9:g.36996188_36996191del NCBI36
NG_008624.1:g.5485_5488del

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.424_427del MANE Select ENSP00000167586.6:p.Asp142TrpfsTer3
ENST00000167586.6:c.424_427del ENSP00000167586.6:p.Asp142TrpfsTer3
NM_000526.4:c.424_427del NP_000517.2:p.Asp142TrpfsTer3
NM_000526.5:c.424_427del MANE Select NP_000517.3:p.Asp142TrpfsTer3
Search 100 bp 5'
Search 100 bp 3'