Canonical Allele Identifier: CA2036619140
Gene: KRT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675445_52675460delinsGGAGCCGTAGCTGCTA , CM000674.2:g.52675445_52675460delinsGGAGCCGTAGCTGCTA GRCh38
NC_000012.11:g.53069229_53069244delinsGGAGCCGTAGCTGCTA , CM000674.1:g.53069229_53069244delinsGGAGCCGTAGCTGCTA GRCh37
NC_000012.10:g.51355496_51355511delinsGGAGCCGTAGCTGCTA NCBI36
NG_008364.1:g.9948_9963delinsTAGCAGCTACGGCTCC
NG_008364.2:g.9948_9963delinsTAGCAGCTACGGCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1668_1683delinsTAGCAGCTACGGCTCC MANE Select ENSP00000252244.3:p.Gly556=
NM_006121.3:c.1668_1683delinsTAGCAGCTACGGCTCC NP_006112.3:p.Gly556=
NM_006121.4:c.1668_1683delinsTAGCAGCTACGGCTCC MANE Select NP_006112.3:p.Gly556=