Canonical Allele Identifier: CA605240418
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs1327949910
gnomAD v2: 12-52845466-CA-C
gnomAD v3: 12-52451682-CA-C
gnomAD v4: 12-52451682-CA-C
MyVariant Identifiers: chr12:g.52845467del (hg19) chr12:g.52451683del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451683del , CM000674.2:g.52451683del GRCh38
NC_000012.11:g.52845467del , CM000674.1:g.52845467del GRCh37
NC_000012.10:g.51131734del NCBI36
NG_008299.1:g.5444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.396del MANE Select ENSP00000252252.3:p.Gly133GlufsTer13
ENST00000252252.3:c.396del ENSP00000252252.3:p.Gly133GlufsTer13
NM_005555.3:c.396del NP_005546.2:p.Gly133GlufsTer13
NM_005555.4:c.396del MANE Select NP_005546.2:p.Gly133GlufsTer13
Search 100 bp 5'
Search 100 bp 3'