Canonical Allele Identifier: CA626215382
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1567736446
gnomAD v2: 17-39739379-GGGA-G
gnomAD v3: 17-41583127-GGGA-G
gnomAD v4: 17-41583127-GGGA-G
MyVariant Identifiers: chr17:g.39739380_39739382del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583135_41583137del , CM000679.2:g.41583135_41583137del GRCh38
NC_000017.10:g.39739387_39739389del , CM000679.1:g.39739387_39739389del GRCh37
NC_000017.9:g.36992913_36992915del NCBI36
NG_008624.1:g.8766_8768del

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.1285_1287del MANE Select ENSP00000167586.6:p.Ser429del
ENST00000167586.6:c.1285_1287del ENSP00000167586.6:p.Ser429del
ENST00000441550.2:n.232_234del
NM_000526.4:c.1285_1287del NP_000517.2:p.Ser429del
NM_000526.5:c.1285_1287del MANE Select NP_000517.3:p.Ser429del
Search 100 bp 5'
Search 100 bp 3'