Canonical Allele Identifier: CA658658156
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 452356
ClinVar RCV Id: RCV000520096
dbSNP Id: rs1555156102
MyVariant Identifiers: chr12:g.52910571_52910582dup (hg19) chr12:g.52516787_52516798dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516789_52516800dup , CM000674.2:g.52516789_52516800dup GRCh38
NC_000012.11:g.52910573_52910584dup , CM000674.1:g.52910573_52910584dup GRCh37
NC_000012.10:g.51196840_51196851dup NCBI36
NG_008297.1:g.8662_8673dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1278_1289dup MANE Select ENSP00000252242.4:p.Arg429_Asn430insLysAspAlaArg
ENST00000252242.8:c.1278_1289dup ENSP00000252242.4:p.Arg429_Asn430insLysAspAlaArg
ENST00000547890.5:n.656_667dup
ENST00000548409.5:c.400_411dup
ENST00000549511.5:n.485_496dup
ENST00000552629.5:n.1376_1387dup
NM_000424.3:c.1278_1289dup NP_000415.2:p.Arg429_Asn430insLysAspAlaArg
NM_000424.4:c.1278_1289dup MANE Select NP_000415.2:p.Arg429_Asn430insLysAspAlaArg
Search 100 bp 5'
Search 100 bp 3'