Canonical Allele Identifier: CA2618946363
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675447-AGCCGTAGCTGCTAC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675448_52675461del , CM000674.2:g.52675448_52675461del GRCh38
NC_000012.11:g.53069232_53069245del , CM000674.1:g.53069232_53069245del GRCh37
NC_000012.10:g.51355499_51355512del NCBI36
NG_008364.1:g.9947_9960del
NG_008364.2:g.9947_9960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1667_1680del MANE Select ENSP00000252244.3:p.Gly556ValfsTer?
NM_006121.3:c.1667_1680del NP_006112.3:p.Gly556ValfsTer?
NM_006121.4:c.1667_1680del MANE Select NP_006112.3:p.Gly556ValfsTer?
Search 100 bp 5'
Search 100 bp 3'