Canonical Allele Identifier: CA6716495
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs754954834
ExAC: 12:91449214 G / GCACTGATT
gnomAD v4: 12-91055437-G-GCACTGATT
MyVariant Identifiers: chr12:g.91449214_91449215insCACTGATT (hg19) chr12:g.91055437_91055438insCACTGATT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055439_91055446dup , CM000674.2:g.91055439_91055446dup GRCh38
NC_000012.11:g.91449216_91449223dup , CM000674.1:g.91449216_91449223dup GRCh37
NC_000012.10:g.89973347_89973354dup NCBI36
NG_021223.1:g.7910_7917dup , LRG_538:g.7910_7917dup

Transcript Alleles

HGVS Amino-acid change
ENST00000266719.4:c.837_844dup MANE Select ENSP00000266719.3:p.Ala282GlufsTer19
ENST00000266719.3:c.837_844dup ENSP00000266719.3:p.Ala282GlufsTer19
NM_007035.3:c.837_844dup , LRG_538t1:c.837_844dup NP_008966.1:p.Ala282GlufsTer19
XM_011537781.1:c.837_844dup XP_011536083.1:p.Ala282GlufsTer19
NM_007035.4:c.837_844dup MANE Select NP_008966.1:p.Ala282GlufsTer19
Search 100 bp 5'
Search 100 bp 3'