Canonical Allele Identifier: CA2575166857

Gene: KRT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52675461_52675462insGG , CM000674.2:g.52675461_52675462insGG	GRCh38
NC_000012.11:g.53069245_53069246insGG , CM000674.1:g.53069245_53069246insGG	GRCh37
NC_000012.10:g.51355512_51355513insGG	NCBI36
NG_008364.1:g.9946_9947insCC
NG_008364.2:g.9946_9947insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1666_1667insCC MANE Select	ENSP00000252244.3:p.Gly556AlafsTer?
NM_006121.3:c.1666_1667insCC	NP_006112.3:p.Gly556AlafsTer?
NM_006121.4:c.1666_1667insCC MANE Select	NP_006112.3:p.Gly556AlafsTer?