Canonical Allele Identifier: CA8562414
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs764269543
ExAC: 17:39739362 CGATCCAGAGGA / C
gnomAD v3: 17-41583110-CGATCCAGAGGA-C
gnomAD v4: 17-41583110-CGATCCAGAGGA-C
MyVariant Identifiers: chr17:g.39739363_39739373del (hg19) chr17:g.41583111_41583121del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583113_41583123del , CM000679.2:g.41583113_41583123del GRCh38
NC_000017.10:g.39739365_39739375del , CM000679.1:g.39739365_39739375del GRCh37
NC_000017.9:g.36992891_36992901del NCBI36
NG_008624.1:g.8775_8785del

Transcript Alleles

HGVS Amino-acid change
ENST00000167586.7:c.1294_1304del MANE Select ENSP00000167586.6:p.Ser432AlafsTer?
ENST00000167586.6:c.1294_1304del ENSP00000167586.6:p.Ser432AlafsTer?
ENST00000441550.2:n.241_251del
NM_000526.4:c.1294_1304del NP_000517.2:p.Ser432AlafsTer?
NM_000526.5:c.1294_1304del MANE Select NP_000517.3:p.Ser432AlafsTer?
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