Canonical Allele Identifier: CA2054260120
Gene: KERA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055947_91055948delinsAT , CM000674.2:g.91055947_91055948delinsAT GRCh38
NC_000012.11:g.91449724_91449725delinsAT , CM000674.1:g.91449724_91449725delinsAT GRCh37
NC_000012.10:g.89973855_89973856delinsAT NCBI36
NG_021223.1:g.7407_7408delinsAT , LRG_538:g.7407_7408delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.334_335delinsAT MANE Select ENSP00000266719.3:p.Ile112=
ENST00000266719.3:c.334_335delinsAT ENSP00000266719.3:p.Ile112=
NM_007035.3:c.334_335delinsAT , LRG_538t1:c.334_335delinsAT NP_008966.1:p.Ile112=
XM_011537781.1:c.334_335delinsAT XP_011536083.1:p.Ile112=
NM_007035.4:c.334_335delinsAT MANE Select NP_008966.1:p.Ile112=