Canonical Allele Identifier: CA2618946369
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675450-C-CATA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675450_52675451insATA , CM000674.2:g.52675450_52675451insATA GRCh38
NC_000012.11:g.53069234_53069235insATA , CM000674.1:g.53069234_53069235insATA GRCh37
NC_000012.10:g.51355501_51355502insATA NCBI36
NG_008364.1:g.9957_9958insTAT
NG_008364.2:g.9957_9958insTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1677_1678insTAT MANE Select ENSP00000252244.3:p.Tyr559_Gly560insTyr
NM_006121.3:c.1677_1678insTAT NP_006112.3:p.Tyr559_Gly560insTyr
NM_006121.4:c.1677_1678insTAT MANE Select NP_006112.3:p.Tyr559_Gly560insTyr
Search 100 bp 5'
Search 100 bp 3'