Canonical Allele Identifier: CA6716598
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs756325200
ExAC: 12:91449772 TG / T
gnomAD v2: 12-91449772-TG-T
gnomAD v4: 12-91055995-TG-T
MyVariant Identifiers: chr12:g.91449773del (hg19) chr12:g.91055996del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055998del , CM000674.2:g.91055998del GRCh38
NC_000012.11:g.91449775del , CM000674.1:g.91449775del GRCh37
NC_000012.10:g.89973906del NCBI36
NG_021223.1:g.7359del , LRG_538:g.7359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.286del MANE Select ENSP00000266719.3:p.Gln96SerfsTer2
ENST00000266719.3:c.286del ENSP00000266719.3:p.Gln96SerfsTer2
NM_007035.3:c.286del , LRG_538t1:c.286del NP_008966.1:p.Gln96SerfsTer2
XM_011537781.1:c.286del XP_011536083.1:p.Gln96SerfsTer2
NM_007035.4:c.286del MANE Select NP_008966.1:p.Gln96SerfsTer2
Search 100 bp 5'
Search 100 bp 3'