Canonical Allele Identifier: CA192412391

Gene: APTX

Linked Data

• dbSNP Id: rs141775485
• gnomAD v2: 9-33014332-G-GAGA
• gnomAD v3: 9-33014334-G-GAGA
• gnomAD v4: 9-33014334-G-GAGA
• MyVariant Identifiers: chr9:g.33014332_33014333insAGA (hg19) ; chr9:g.33014334_33014335insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.33014335_33014337dup , CM000671.2:g.33014335_33014337dup	GRCh38
NC_000009.11:g.33014333_33014335dup , CM000671.1:g.33014333_33014335dup	GRCh37
NC_000009.10:g.33004333_33004335dup	NCBI36
NG_012821.2:g.15795_15797dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436040.7:c.-5+10686_-5+10688dup	ENSP00000400806.4:n.-5+10686_-5+10688dup
ENST00000460940.6:c.-5+10663_-5+10665dup	ENSP00000418311.1:n.-5+10663_-5+10665dup
ENST00000467331.6:c.-5+10467_-5+10469dup	ENSP00000418733.1:n.-5+10467_-5+10469dup
ENST00000468275.6:c.-5+10467_-5+10469dup	ENSP00000420263.2:n.-5+10467_-5+10469dup
ENST00000482687.6:c.-5+10467_-5+10469dup	ENSP00000419289.2:n.-5+10467_-5+10469dup
ENST00000485479.6:c.-5+10663_-5+10665dup	ENSP00000418144.1:n.-5+10663_-5+10665dup
ENST00000495360.6:c.-5+10663_-5+10665dup	ENSP00000419623.2:n.-5+10663_-5+10665dup
ENST00000672281.1:n.193+3339_193+3341dup
ENST00000673248.1:c.-127+10467_-127+10469dup	ENSP00000500601.1:n.-127+10467_-127+10469dup
ENST00000673360.1:c.-5+10467_-5+10469dup	ENSP00000500360.1:n.-5+10467_-5+10469dup
ENST00000673487.1:c.-5+10467_-5+10469dup	ENSP00000500943.1:n.-5+10467_-5+10469dup
ENST00000460945.5:n.169+10663_169+10665dup
ENST00000495360.5:c.-5+10467_-5+10469dup	ENSP00000419623.1:n.-5+10467_-5+10469dup
XM_011517936.1:c.-264+10686_-264+10688dup	XP_011516238.1:n.-264+10686_-264+10688dup
XM_011517937.1:c.-222+10663_-222+10665dup	XP_011516239.1:n.-222+10663_-222+10665dup
XM_017014837.2:c.-5+10467_-5+10469dup	XP_016870326.1:n.-5+10467_-5+10469dup
XM_024447575.1:c.-5+10467_-5+10469dup	XP_024303343.1:n.-5+10467_-5+10469dup
XM_024447576.1:c.-5+10663_-5+10665dup	XP_024303344.1:n.-5+10663_-5+10665dup
XM_024447577.1:c.-5+10686_-5+10688dup	XP_024303345.1:n.-5+10686_-5+10688dup
XM_024447579.1:c.-5+10467_-5+10469dup	XP_024303347.1:n.-5+10467_-5+10469dup
XM_024447580.1:c.-5+10686_-5+10688dup	XP_024303348.1:n.-5+10686_-5+10688dup
XM_024447581.1:c.-264+10467_-264+10469dup	XP_024303349.1:n.-264+10467_-264+10469dup
XM_024447582.1:c.-264+10663_-264+10665dup	XP_024303350.1:n.-264+10663_-264+10665dup
NM_001368995.1:c.-5+10663_-5+10665dup	NP_001355924.1:n.-5+10663_-5+10665dup
NM_001368996.1:c.-5+10686_-5+10688dup	NP_001355925.1:n.-5+10686_-5+10688dup
NM_001368997.1:c.-5+10467_-5+10469dup	NP_001355926.1:n.-5+10467_-5+10469dup
NM_001368999.1:c.-5+10467_-5+10469dup	NP_001355928.1:n.-5+10467_-5+10469dup
NM_001369000.1:c.-5+10467_-5+10469dup	NP_001355929.1:n.-5+10467_-5+10469dup
NM_001369001.1:c.-5+10686_-5+10688dup	NP_001355930.1:n.-5+10686_-5+10688dup
NM_001369002.1:c.-264+10663_-264+10665dup	NP_001355931.1:n.-264+10663_-264+10665dup
NM_001369003.1:c.-264+10467_-264+10469dup	NP_001355932.1:n.-264+10467_-264+10469dup
NR_160922.1:n.317+10467_317+10469dup
NR_160923.1:n.121+10663_121+10665dup
NR_160924.1:n.121+10663_121+10665dup
NR_160925.1:n.317+10467_317+10469dup
NR_160926.1:n.121+10663_121+10665dup
NR_160927.1:n.317+10467_317+10469dup
NR_160928.1:n.317+10467_317+10469dup
NR_160929.1:n.121+10663_121+10665dup