Canonical Allele Identifier: CA2585127085

Gene: PRX

Linked Data

• gnomAD v4: 19-40396271-G-GGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396273_40396275dup , CM000681.2:g.40396273_40396275dup	GRCh38
NC_000019.9:g.40902180_40902182dup , CM000681.1:g.40902180_40902182dup	GRCh37
NC_000019.8:g.45594020_45594022dup	NCBI36
NG_007979.1:g.22091_22093dup , LRG_265:g.22091_22093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2078_2080dup MANE Select	ENSP00000326018.6:p.Leu693_Pro694insLeu
ENST00000673881.1:c.1661_1663dup	ENSP00000501070.1:p.Leu554_Pro555insLeu
ENST00000674005.2:c.2363_2365dup	ENSP00000501261.1:p.Leu788_Pro789insLeu
ENST00000674773.1:c.1661_1663dup	ENSP00000502579.1:p.Leu554_Pro555insLeu
ENST00000675517.1:c.1953_1955dup
ENST00000676076.1:c.1939_1941dup
ENST00000676260.1:c.2040_2042dup
ENST00000676316.1:c.1965_1967dup
ENST00000291825.11:c.*2283_*2285dup	ENSP00000291825.6:n.*2283_*2285dup
ENST00000324001.7:c.2078_2080dup	ENSP00000326018.6:p.Leu693_Pro694insLeu
NM_020956.2:c.*2283_*2285dup , LRG_265t1:c.*2283_*2285dup	NP_066007.1:n.*2283_*2285dup
NM_181882.2:c.2078_2080dup , LRG_265t2:c.2078_2080dup	NP_870998.2:p.Leu693_Pro694insLeu
XM_011527171.1:c.2078_2080dup	XP_011525473.1:p.Leu693_Pro694insLeu
XM_011527171.2:c.2078_2080dup	XP_011525473.1:p.Leu693_Pro694insLeu
XM_017027046.1:c.1976_1978dup	XP_016882535.1:p.Leu659_Pro660insLeu
XM_017027047.1:c.1976_1978dup	XP_016882536.1:p.Leu659_Pro660insLeu
NM_181882.3:c.2078_2080dup MANE Select	NP_870998.2:p.Leu693_Pro694insLeu