Canonical Allele Identifier: CA2618946348

Gene: KRT1

Linked Data

• gnomAD v4: 12-52675440-CCTCCGGAGCCGTAGCTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675441_52675459del , CM000674.2:g.52675441_52675459del	GRCh38
NC_000012.11:g.53069225_53069243del , CM000674.1:g.53069225_53069243del	GRCh37
NC_000012.10:g.51355492_51355510del	NCBI36
NG_008364.1:g.9949_9967del
NG_008364.2:g.9949_9967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1669_1687del MANE Select	ENSP00000252244.3:p.Ser557ValfsTer?
NM_006121.3:c.1669_1687del	NP_006112.3:p.Ser557ValfsTer?
NM_006121.4:c.1669_1687del MANE Select	NP_006112.3:p.Ser557ValfsTer?