Canonical Allele Identifier: CA2054260124
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs1878990367
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055949del , CM000674.2:g.91055949del GRCh38
NC_000012.11:g.91449726del , CM000674.1:g.91449726del GRCh37
NC_000012.10:g.89973857del NCBI36
NG_021223.1:g.7407del , LRG_538:g.7407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.334del MANE Select ENSP00000266719.3:p.Ile112LeufsTer6
ENST00000266719.3:c.334del ENSP00000266719.3:p.Ile112LeufsTer6
NM_007035.3:c.334del , LRG_538t1:c.334del NP_008966.1:p.Ile112LeufsTer6
XM_011537781.1:c.334del XP_011536083.1:p.Ile112LeufsTer6
NM_007035.4:c.334del MANE Select NP_008966.1:p.Ile112LeufsTer6
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