Canonical Allele Identifier: CA607142964
Gene: KERA HGNC NCBI

Linked Data

gnomAD v2: 12-91449773-G-GAAATAA
MyVariant Identifiers: chr12:g.91449773_91449774insAAATAA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055996_91055997insAAATAA , CM000674.2:g.91055996_91055997insAAATAA GRCh38
NC_000012.11:g.91449773_91449774insAAATAA , CM000674.1:g.91449773_91449774insAAATAA GRCh37
NC_000012.10:g.89973904_89973905insAAATAA NCBI36
NG_021223.1:g.7358_7359insTTATTT , LRG_538:g.7358_7359insTTATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.285_286insTTATTT MANE Select ENSP00000266719.3:p.Thr95_Gln96insLeuPhe
ENST00000266719.3:c.285_286insTTATTT ENSP00000266719.3:p.Thr95_Gln96insLeuPhe
NM_007035.3:c.285_286insTTATTT , LRG_538t1:c.285_286insTTATTT NP_008966.1:p.Thr95_Gln96insLeuPhe
XM_011537781.1:c.285_286insTTATTT XP_011536083.1:p.Thr95_Gln96insLeuPhe
NM_007035.4:c.285_286insTTATTT MANE Select NP_008966.1:p.Thr95_Gln96insLeuPhe
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