Canonical Allele Identifier: CA2618930485
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52492582-AGGAAGGTGTTGCTCCTCTGGTCTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492585_52492608del , CM000674.2:g.52492585_52492608del GRCh38
NC_000012.11:g.52886369_52886392del , CM000674.1:g.52886369_52886392del GRCh37
NC_000012.10:g.51172636_51172659del NCBI36
NG_008298.1:g.5792_5815del

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.540+43_540+66del MANE Select ENSP00000369317.3:n.540+43_540+66del
ENST00000330722.6:c.540+43_540+66del ENSP00000369317.3:n.540+43_540+66del
ENST00000549898.5:n.61+43_61+66del
NM_005554.3:c.540+43_540+66del NP_005545.1:n.540+43_540+66del
NM_005554.4:c.540+43_540+66del MANE Select NP_005545.1:n.540+43_540+66del
Search 100 bp 5'
Search 100 bp 3'