Canonical Allele Identifier: CA2620149241
Gene: KERA HGNC NCBI

Linked Data

gnomAD v4: 12-91055613-ATTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055618_91055620del , CM000674.2:g.91055618_91055620del GRCh38
NC_000012.11:g.91449395_91449397del , CM000674.1:g.91449395_91449397del GRCh37
NC_000012.10:g.89973526_89973528del NCBI36
NG_021223.1:g.7739_7741del , LRG_538:g.7739_7741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.666_668del MANE Select ENSP00000266719.3:p.Asn223del
ENST00000266719.3:c.666_668del ENSP00000266719.3:p.Asn223del
NM_007035.3:c.666_668del , LRG_538t1:c.666_668del NP_008966.1:p.Asn223del
XM_011537781.1:c.666_668del XP_011536083.1:p.Asn223del
NM_007035.4:c.666_668del MANE Select NP_008966.1:p.Asn223del
Search 100 bp 5'
Search 100 bp 3'