Canonical Allele Identifier: CA2620149249
Gene: KERA HGNC NCBI

Linked Data

gnomAD v4: 12-91055995-T-TAGAAATAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055995_91055996insAGAAATAA , CM000674.2:g.91055995_91055996insAGAAATAA GRCh38
NC_000012.11:g.91449772_91449773insAGAAATAA , CM000674.1:g.91449772_91449773insAGAAATAA GRCh37
NC_000012.10:g.89973903_89973904insAGAAATAA NCBI36
NG_021223.1:g.7359_7360insTTATTTCT , LRG_538:g.7359_7360insTTATTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.286_287insTTATTTCT MANE Select ENSP00000266719.3:p.Gln96LeufsTer5
ENST00000266719.3:c.286_287insTTATTTCT ENSP00000266719.3:p.Gln96LeufsTer5
NM_007035.3:c.286_287insTTATTTCT , LRG_538t1:c.286_287insTTATTTCT NP_008966.1:p.Gln96LeufsTer5
XM_011537781.1:c.286_287insTTATTTCT XP_011536083.1:p.Gln96LeufsTer5
NM_007035.4:c.286_287insTTATTTCT MANE Select NP_008966.1:p.Gln96LeufsTer5
Search 100 bp 5'
Search 100 bp 3'