Canonical Allele Identifier: CA2054259679
Gene: KERA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055582_91055583delinsTA , CM000674.2:g.91055582_91055583delinsTA GRCh38
NC_000012.11:g.91449359_91449360delinsTA , CM000674.1:g.91449359_91449360delinsTA GRCh37
NC_000012.10:g.89973490_89973491delinsTA NCBI36
NG_021223.1:g.7772_7773delinsTA , LRG_538:g.7772_7773delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.699_700delinsTA MANE Select ENSP00000266719.3:p.Phe233=
ENST00000266719.3:c.699_700delinsTA ENSP00000266719.3:p.Phe233=
NM_007035.3:c.699_700delinsTA , LRG_538t1:c.699_700delinsTA NP_008966.1:p.Phe233=
XM_011537781.1:c.699_700delinsTA XP_011536083.1:p.Phe233=
NM_007035.4:c.699_700delinsTA MANE Select NP_008966.1:p.Phe233=
Search 100 bp 5'
Search 100 bp 3'