Canonical Allele Identifier: CA947697834
Gene: KRT6B HGNC NCBI

Linked Data

dbSNP Id: rs1940406547
gnomAD v3: 12-52451695-AG-A
gnomAD v4: 12-52451695-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451698del , CM000674.2:g.52451698del GRCh38
NC_000012.11:g.52845482del , CM000674.1:g.52845482del GRCh37
NC_000012.10:g.51131749del NCBI36
NG_008299.1:g.5431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.383del MANE Select ENSP00000252252.3:p.Pro128LeufsTer18
ENST00000252252.3:c.383del ENSP00000252252.3:p.Pro128LeufsTer18
NM_005555.3:c.383del NP_005546.2:p.Pro128LeufsTer18
NM_005555.4:c.383del MANE Select NP_005546.2:p.Pro128LeufsTer18
Search 100 bp 5'
Search 100 bp 3'