Canonical Allele Identifier: CA8562818
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs772548869
ExAC: 17:39742983 AGGAC / A
gnomAD v2: 17-39742983-AGGAC-A
gnomAD v4: 17-41586731-AGGAC-A
MyVariant Identifiers: chr17:g.39742984_39742987del (hg19) chr17:g.41586732_41586735del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586735_41586738del , CM000679.2:g.41586735_41586738del GRCh38
NC_000017.10:g.39742987_39742990del , CM000679.1:g.39742987_39742990del GRCh37
NC_000017.9:g.36996513_36996516del NCBI36
NG_008624.1:g.5161_5164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.100_103del MANE Select ENSP00000167586.6:p.Val34TrpfsTer?
ENST00000167586.6:c.100_103del ENSP00000167586.6:p.Val34TrpfsTer?
NM_000526.4:c.100_103del NP_000517.2:p.Val34TrpfsTer?
NM_000526.5:c.100_103del MANE Select NP_000517.3:p.Val34TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'