Canonical Allele Identifier: CA1941459295
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs746547640
gnomAD v4: 10-122461681-C-CGCTGCTGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461692_122461700dup , CM000672.2:g.122461692_122461700dup GRCh38
NC_000010.10:g.124221208_124221216dup , CM000672.1:g.124221208_124221216dup GRCh37
NC_000010.9:g.124211198_124211206dup NCBI36
NG_011554.1:g.5168_5176dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.40_48dup MANE Select ENSP00000357980.3:p.Leu16_Ala17insLeuLeuLeu
ENST00000648167.1:c.154+2983_154+2991dup ENSP00000498033.1:n.154+2983_154+2991dup
ENST00000368984.7:c.40_48dup ENSP00000357980.3:p.Leu16_Ala17insLeuLeuLeu
NM_002775.4:c.40_48dup NP_002766.1:p.Leu16_Ala17insLeuLeuLeu
NM_002775.5:c.40_48dup MANE Select NP_002766.1:p.Leu16_Ala17insLeuLeuLeu
Search 100 bp 5'
Search 100 bp 3'