Canonical Allele Identifier: CA2036619135

Gene: KRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675443_52675451delinsCCGGAGCCG , CM000674.2:g.52675443_52675451delinsCCGGAGCCG	GRCh38
NC_000012.11:g.53069227_53069235delinsCCGGAGCCG , CM000674.1:g.53069227_53069235delinsCCGGAGCCG	GRCh37
NC_000012.10:g.51355494_51355502delinsCCGGAGCCG	NCBI36
NG_008364.1:g.9957_9965delinsCGGCTCCGG
NG_008364.2:g.9957_9965delinsCGGCTCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1677_1685delinsCGGCTCCGG MANE Select	ENSP00000252244.3:p.Tyr559=
NM_006121.3:c.1677_1685delinsCGGCTCCGG	NP_006112.3:p.Tyr559=
NM_006121.4:c.1677_1685delinsCGGCTCCGG MANE Select	NP_006112.3:p.Tyr559=