Canonical Allele Identifier: CA2620149239
Gene: KERA HGNC NCBI

Linked Data

gnomAD v4: 12-91055556-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055561dup , CM000674.2:g.91055561dup GRCh38
NC_000012.11:g.91449338dup , CM000674.1:g.91449338dup GRCh37
NC_000012.10:g.89973469dup NCBI36
NG_021223.1:g.7798dup , LRG_538:g.7798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.725dup MANE Select ENSP00000266719.3:p.Leu242PhefsTer11
ENST00000266719.3:c.725dup ENSP00000266719.3:p.Leu242PhefsTer11
NM_007035.3:c.725dup , LRG_538t1:c.725dup NP_008966.1:p.Leu242PhefsTer11
XM_011537781.1:c.725dup XP_011536083.1:p.Leu242PhefsTer11
NM_007035.4:c.725dup MANE Select NP_008966.1:p.Leu242PhefsTer11
Search 100 bp 5'
Search 100 bp 3'