Canonical Allele Identifier: CA973711127

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034892997
• gnomAD v3: 16-1361961-T-TGGGGCC
• gnomAD v4: 16-1361961-T-TGGGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361967_1361972dup , CM000678.2:g.1361967_1361972dup	GRCh38
NC_000016.9:g.1411968_1411973dup , CM000678.1:g.1411968_1411973dup	GRCh37
NC_000016.8:g.1351969_1351974dup	NCBI36
NG_016985.1:g.15069_15074dup
NG_033129.1:g.57738_57743dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+12_416+17dup
ENST00000529110.2:c.401+12_401+17dup	ENSP00000435349.2:n.401+12_401+17dup
ENST00000529957.6:n.375+12_375+17dup
ENST00000683366.1:c.*49+12_*49+17dup	ENSP00000507283.1:n.*49+12_*49+17dup
ENST00000683887.1:c.365+12_365+17dup	ENSP00000506886.1:n.365+12_365+17dup
ENST00000684100.1:n.311+12_311+17dup
ENST00000684126.1:n.375+12_375+17dup
ENST00000684688.1:n.942+12_942+17dup
ENST00000204679.9:c.317+12_317+17dup MANE Select	ENSP00000204679.4:n.317+12_317+17dup
ENST00000204679.8:c.317+12_317+17dup	ENSP00000204679.4:n.317+12_317+17dup
ENST00000526820.5:c.*219+12_*219+17dup	ENSP00000434413.1:n.*219+12_*219+17dup
ENST00000527076.1:n.1333+12_1333+17dup
ENST00000527168.5:n.353+12_353+17dup
ENST00000529110.1:c.384+12_384+17dup
ENST00000529957.5:n.416+12_416+17dup
NM_032520.4:c.317+12_317+17dup	NP_115909.1:n.317+12_317+17dup
XM_017023782.1:c.365+12_365+17dup	XP_016879271.1:n.365+12_365+17dup
XM_017023783.1:c.-44+12_-44+17dup	XP_016879272.1:n.-44+12_-44+17dup
NM_032520.5:c.317+12_317+17dup MANE Select	NP_115909.1:n.317+12_317+17dup