Canonical Allele Identifier: CA1941478131

Gene: HTRA1

Linked Data

• dbSNP Id: rs2097504290

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508771_122508772insAAAAGCCATCACCAAGAAGAAG , CM000672.2:g.122508771_122508772insAAAAGCCATCACCAAGAAGAAG	GRCh38
NC_000010.10:g.124268287_124268288insAAAAGCCATCACCAAGAAGAAG , CM000672.1:g.124268287_124268288insAAAAGCCATCACCAAGAAGAAG	GRCh37
NC_000010.9:g.124258277_124258278insAAAAGCCATCACCAAGAAGAAG	NCBI36
NG_011554.1:g.52247_52248insAAAAGCCATCACCAAGAAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG MANE Select	ENSP00000357980.3:n.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG
ENST00000648167.1:c.802+1_802+2insAAAAGCCATCACCAAGAAGAAG	ENSP00000498033.1:n.802+1_802+2insAAAAGCCATCACCAAGAAGAAG
ENST00000368984.7:c.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG	ENSP00000357980.3:n.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG
ENST00000420892.1:c.343+1_343+2insAAAAGCCATCACCAAGAAGAAG	ENSP00000412676.1:n.343+1_343+2insAAAAGCCATCACCAAGAAGAAG
NM_002775.4:c.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG	NP_002766.1:n.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG
NM_002775.5:c.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG MANE Select	NP_002766.1:n.1120+1_1120+2insAAAAGCCATCACCAAGAAGAAG