Canonical Allele Identifier: CA214411677

Gene: HTRA1

Linked Data

• dbSNP Id: rs762172527
• gnomAD v2: 10-124266715-A-ATTGT
• gnomAD v3: 10-122507199-A-ATTGT
• gnomAD v4: 10-122507199-A-ATTGT
• MyVariant Identifiers: chr10:g.124266715_124266716insTTGT (hg19) ; chr10:g.122507199_122507200insTTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122507201_122507204dup , CM000672.2:g.122507201_122507204dup	GRCh38
NC_000010.10:g.124266717_124266720dup , CM000672.1:g.124266717_124266720dup	GRCh37
NC_000010.9:g.124256707_124256710dup	NCBI36
NG_011554.1:g.50677_50680dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.973-169_973-166dup MANE Select	ENSP00000357980.3:n.973-169_973-166dup
ENST00000648167.1:c.655-169_655-166dup	ENSP00000498033.1:n.655-169_655-166dup
ENST00000368984.7:c.973-169_973-166dup	ENSP00000357980.3:n.973-169_973-166dup
ENST00000420892.1:c.196-169_196-166dup	ENSP00000412676.1:n.196-169_196-166dup
NM_002775.4:c.973-169_973-166dup	NP_002766.1:n.973-169_973-166dup
NM_002775.5:c.973-169_973-166dup MANE Select	NP_002766.1:n.973-169_973-166dup