Canonical Allele Identifier: CA605240663
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1284794490
gnomAD v2: 12-52882026-TG-T
gnomAD v3: 12-52488242-TG-T
gnomAD v4: 12-52488242-TG-T
MyVariant Identifiers: chr12:g.52882027del (hg19) chr12:g.52488243del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488245del , CM000674.2:g.52488245del GRCh38
NC_000012.11:g.52882029del , CM000674.1:g.52882029del GRCh37
NC_000012.10:g.51168296del NCBI36
NG_008298.1:g.10155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1424+85del MANE Select ENSP00000369317.3:n.1424+85del
ENST00000330722.6:c.1424+85del ENSP00000369317.3:n.1424+85del
NM_005554.3:c.1424+85del NP_005545.1:n.1424+85del
NM_005554.4:c.1424+85del MANE Select NP_005545.1:n.1424+85del
Search 100 bp 5'
Search 100 bp 3'