Canonical Allele Identifier: CA2620149247
Gene: KERA HGNC NCBI

Linked Data

gnomAD v4: 12-91055953-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055954del , CM000674.2:g.91055954del GRCh38
NC_000012.11:g.91449731del , CM000674.1:g.91449731del GRCh37
NC_000012.10:g.89973862del NCBI36
NG_021223.1:g.7401del , LRG_538:g.7401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.328del MANE Select ENSP00000266719.3:p.Tyr110ThrfsTer8
ENST00000266719.3:c.328del ENSP00000266719.3:p.Tyr110ThrfsTer8
NM_007035.3:c.328del , LRG_538t1:c.328del NP_008966.1:p.Tyr110ThrfsTer8
XM_011537781.1:c.328del XP_011536083.1:p.Tyr110ThrfsTer8
NM_007035.4:c.328del MANE Select NP_008966.1:p.Tyr110ThrfsTer8
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