Canonical Allele Identifier: CA2620149246
Gene: KERA HGNC NCBI

Linked Data

gnomAD v4: 12-91055939-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055944del , CM000674.2:g.91055944del GRCh38
NC_000012.11:g.91449721del , CM000674.1:g.91449721del GRCh37
NC_000012.10:g.89973852del NCBI36
NG_021223.1:g.7415del , LRG_538:g.7415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.342del MANE Select ENSP00000266719.3:p.Gly115GlufsTer3
ENST00000266719.3:c.342del ENSP00000266719.3:p.Gly115GlufsTer3
NM_007035.3:c.342del , LRG_538t1:c.342del NP_008966.1:p.Gly115GlufsTer3
XM_011537781.1:c.342del XP_011536083.1:p.Gly115GlufsTer3
NM_007035.4:c.342del MANE Select NP_008966.1:p.Gly115GlufsTer3
Search 100 bp 5'
Search 100 bp 3'