Canonical Allele Identifier: CA2842606500
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675456_52675475del , CM000674.2:g.52675456_52675475del GRCh38
NC_000012.11:g.53069240_53069259del , CM000674.1:g.53069240_53069259del GRCh37
NC_000012.10:g.51355507_51355526del NCBI36
NG_008364.1:g.9933_9952del
NG_008364.2:g.9933_9952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1653_1672del MANE Select ENSP00000252244.3:p.Ser551ArgfsTer?
NM_006121.3:c.1653_1672del NP_006112.3:p.Ser551ArgfsTer?
NM_006121.4:c.1653_1672del MANE Select NP_006112.3:p.Ser551ArgfsTer?