Canonical Allele Identifier: CA973711428

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034924779
• gnomAD v3: 16-1362617-G-GAGA
• gnomAD v4: 16-1362617-G-GAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362620_1362622dup , CM000678.2:g.1362620_1362622dup	GRCh38
NC_000016.9:g.1412621_1412623dup , CM000678.1:g.1412621_1412623dup	GRCh37
NC_000016.8:g.1352622_1352624dup	NCBI36
NG_016985.1:g.15722_15724dup
NG_033129.1:g.57085_57087dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.718_720dup
ENST00000529110.2:c.703_705dup	ENSP00000435349.2:p.Lys235_Leu236insLys
ENST00000529957.6:n.677_679dup
ENST00000683366.1:c.*351_*353dup	ENSP00000507283.1:n.*351_*353dup
ENST00000683887.1:c.667_669dup	ENSP00000506886.1:p.Lys223_Leu224insLys
ENST00000684100.1:n.613_615dup
ENST00000684126.1:n.753_755dup
ENST00000684688.1:n.1244_1246dup
ENST00000204679.9:c.619_621dup MANE Select	ENSP00000204679.4:p.Lys207_Leu208insLys
ENST00000204679.8:c.619_621dup	ENSP00000204679.4:p.Lys207_Leu208insLys
ENST00000527076.1:n.1842_1844dup
ENST00000527168.5:n.786_788dup
ENST00000529957.5:n.718_720dup
NM_032520.4:c.619_621dup	NP_115909.1:p.Lys207_Leu208insLys
XM_017023782.1:c.667_669dup	XP_016879271.1:p.Lys223_Leu224insLys
XM_017023783.1:c.259_261dup	XP_016879272.1:p.Lys87_Leu88insLys
NM_032520.5:c.619_621dup MANE Select	NP_115909.1:p.Lys207_Leu208insLys