Canonical Allele Identifier: CA6716582
Gene: KERA HGNC NCBI

Linked Data

dbSNP Id: rs752473364
ExAC: 12:91449692 ACTT / A
gnomAD v2: 12-91449692-ACTT-A
gnomAD v4: 12-91055915-ACTT-A
MyVariant Identifiers: chr12:g.91449693_91449695del (hg19) chr12:g.91055916_91055918del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.91055920_91055922del , CM000674.2:g.91055920_91055922del GRCh38
NC_000012.11:g.91449697_91449699del , CM000674.1:g.91449697_91449699del GRCh37
NC_000012.10:g.89973828_89973830del NCBI36
NG_021223.1:g.7437_7439del , LRG_538:g.7437_7439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266719.4:c.364_366del MANE Select ENSP00000266719.3:p.Lys122del
ENST00000266719.3:c.364_366del ENSP00000266719.3:p.Lys122del
NM_007035.3:c.364_366del , LRG_538t1:c.364_366del NP_008966.1:p.Lys122del
XM_011537781.1:c.364_366del XP_011536083.1:p.Lys122del
NM_007035.4:c.364_366del MANE Select NP_008966.1:p.Lys122del
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