Canonical Allele Identifier: CA2842606499
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675444_52675459del , CM000674.2:g.52675444_52675459del GRCh38
NC_000012.11:g.53069228_53069243del , CM000674.1:g.53069228_53069243del GRCh37
NC_000012.10:g.51355495_51355510del NCBI36
NG_008364.1:g.9949_9964del
NG_008364.2:g.9949_9964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1669_1684del MANE Select ENSP00000252244.3:p.Ser557GlufsTer?
NM_006121.3:c.1669_1684del NP_006112.3:p.Ser557GlufsTer?
NM_006121.4:c.1669_1684del MANE Select NP_006112.3:p.Ser557GlufsTer?