Canonical Allele Identifier: CA2611246797

Gene: HTRA1

Linked Data

• gnomAD v4: 10-122507269-C-CCCCACTCTAGGCACCGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122507271_122507288dup , CM000672.2:g.122507271_122507288dup	GRCh38
NC_000010.10:g.124266787_124266804dup , CM000672.1:g.124266787_124266804dup	GRCh37
NC_000010.9:g.124256777_124256794dup	NCBI36
NG_011554.1:g.50747_50764dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.973-99_973-82dup MANE Select	ENSP00000357980.3:n.973-99_973-82dup
ENST00000648167.1:c.655-99_655-82dup	ENSP00000498033.1:n.655-99_655-82dup
ENST00000368984.7:c.973-99_973-82dup	ENSP00000357980.3:n.973-99_973-82dup
ENST00000420892.1:c.196-99_196-82dup	ENSP00000412676.1:n.196-99_196-82dup
NM_002775.4:c.973-99_973-82dup	NP_002766.1:n.973-99_973-82dup
NM_002775.5:c.973-99_973-82dup MANE Select	NP_002766.1:n.973-99_973-82dup