Canonical Allele Identifier: CA2618928314
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488493-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488496del , CM000674.2:g.52488496del GRCh38
NC_000012.11:g.52882280del , CM000674.1:g.52882280del GRCh37
NC_000012.10:g.51168547del NCBI36
NG_008298.1:g.9904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1258del MANE Select ENSP00000369317.3:p.Leu420SerfsTer26
ENST00000330722.6:c.1258del ENSP00000369317.3:p.Leu420SerfsTer26
NM_005554.3:c.1258del NP_005545.1:p.Leu420SerfsTer26
NM_005554.4:c.1258del MANE Select NP_005545.1:p.Leu420SerfsTer26
Search 100 bp 5'
Search 100 bp 3'