Canonical Allele Identifier: CA2036522647
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1938285900
gnomAD v3: 12-52492505-TG-T
gnomAD v4: 12-52492505-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492508del , CM000674.2:g.52492508del GRCh38
NC_000012.11:g.52886292del , CM000674.1:g.52886292del GRCh37
NC_000012.10:g.51172559del NCBI36
NG_008298.1:g.5892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.540+143del MANE Select ENSP00000369317.3:n.540+143del
ENST00000330722.6:c.540+143del ENSP00000369317.3:n.540+143del
ENST00000549898.5:n.61+143del
NM_005554.3:c.540+143del NP_005545.1:n.540+143del
NM_005554.4:c.540+143del MANE Select NP_005545.1:n.540+143del
Search 100 bp 5'
Search 100 bp 3'