Canonical Allele Identifier: CA660865637
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1554948193
gnomAD v4: 10-122461620-T-TCCG
MyVariant Identifiers: chr10:g.124221136_124221137insCCG (hg19) chr10:g.122461620_122461621insCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461626_122461628dup , CM000672.2:g.122461626_122461628dup GRCh38
NC_000010.10:g.124221142_124221144dup , CM000672.1:g.124221142_124221144dup GRCh37
NC_000010.9:g.124211132_124211134dup NCBI36
NG_011554.1:g.5102_5104dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.-27_-25dup MANE Select ENSP00000357980.3:n.-27_-25dup
ENST00000648167.1:c.154+2917_154+2919dup ENSP00000498033.1:n.154+2917_154+2919dup
ENST00000368984.7:c.-27_-25dup ENSP00000357980.3:n.-27_-25dup
NM_002775.4:c.-27_-25dup NP_002766.1:n.-27_-25dup
NM_002775.5:c.-27_-25dup MANE Select NP_002766.1:n.-27_-25dup
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