Canonical Allele Identifier: CA6580820
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs748926371
ExAC: 12:52845367 GC / G
gnomAD v2: 12-52845367-GC-G
gnomAD v3: 12-52451583-GC-G
gnomAD v4: 12-52451583-GC-G
MyVariant Identifiers: chr12:g.52845368del (hg19) chr12:g.52451584del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451584del , CM000674.2:g.52451584del GRCh38
NC_000012.11:g.52845368del , CM000674.1:g.52845368del GRCh37
NC_000012.10:g.51131635del NCBI36
NG_008299.1:g.5543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.495del MANE Select ENSP00000252252.3:p.Glu165AspfsTer20
ENST00000252252.3:c.495del ENSP00000252252.3:p.Glu165AspfsTer20
NM_005555.3:c.495del NP_005546.2:p.Glu165AspfsTer20
NM_005555.4:c.495del MANE Select NP_005546.2:p.Glu165AspfsTer20
Search 100 bp 5'
Search 100 bp 3'