Canonical Allele Identifier: CA16042245
Gene: HTRA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372212
ClinVar RCV Id: RCV000412483
dbSNP Id: rs1057519082

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74530927_74530929delinsCAT , CM000664.2:g.74530927_74530929delinsCAT GRCh38
NC_000002.11:g.74758054_74758056delinsCAT , CM000664.1:g.74758054_74758056delinsCAT GRCh37
NC_000002.10:g.74611562_74611564delinsCAT NCBI36
NG_012163.1:g.6523_6525delinsCAT
NG_033037.1:g.3919_3921delinsATG
NG_033047.1:g.28007_28009delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000437202.2:c.728_730delinsCAT ENSP00000399166.2:p.Leu243_Pro244delinsPr...
ENST00000462909.6:n.478_480delinsCAT
ENST00000465521.2:n.309_311delinsCAT
ENST00000467961.6:n.462_464delinsCAT
ENST00000484881.6:n.313_315delinsCAT
ENST00000696725.1:n.611_613delinsCAT
ENST00000696726.1:n.356_358delinsCAT
ENST00000696727.1:c.728_730delinsCAT ENSP00000512836.1:p.Leu243_Pro244delinsPr...
ENST00000696728.1:c.728_730delinsCAT ENSP00000512837.1:p.Leu243_Pro244delinsPr...
ENST00000696729.1:n.333_335delinsCAT
ENST00000696730.1:n.315_317delinsCAT
ENST00000696731.1:n.189_191delinsCAT
ENST00000258080.8:c.728_730delinsCAT MANE Select ENSP00000258080.3:p.Leu243_Pro244delinsPr...
ENST00000258080.7:c.728_730delinsCAT ENSP00000258080.3:p.Leu243_Pro244delinsPr...
ENST00000352222.7:c.711+106_711+108delinsCAT ENSP00000312893.3:n.711+106_711+108delins...
ENST00000437202.1:c.689_691delinsCAT ENSP00000399166.1:p.Leu230_Pro231delinsPr...
ENST00000462909.5:n.478_480delinsCAT
ENST00000465521.1:n.309_311delinsCAT
ENST00000467961.5:n.412_414delinsCAT
ENST00000482205.1:n.242_244delinsCAT
ENST00000482331.1:n.228_230delinsCAT
ENST00000484352.5:n.566_568delinsCAT
ENST00000484881.5:n.313_315delinsCAT
NM_013247.4:c.728_730delinsCAT NP_037379.1:p.Leu243_Pro244delinsProSer
NM_145074.2:c.711+106_711+108delinsCAT NP_659540.1:n.711+106_711+108delinsCAT
XM_005264266.2:c.728_730delinsCAT XP_005264323.1:p.Leu243_Pro244delinsProSe...
NM_001321727.1:c.728_730delinsCAT NP_001308656.1:p.Leu243_Pro244delinsProSe...
NM_001321728.1:c.728_730delinsCAT NP_001308657.1:p.Leu243_Pro244delinsProSe...
NR_135769.1:n.1330_1332delinsCAT
NR_135770.1:n.798_800delinsCAT
NR_135771.1:n.782_784delinsCAT
NR_135772.1:n.802_804delinsCAT
NM_013247.5:c.728_730delinsCAT MANE Select NP_037379.1:p.Leu243_Pro244delinsProSer