Canonical Allele Identifier: CA7807683

Gene: GNPTG

Linked Data

• dbSNP Id: rs760265920
• ExAC: 16:1412173 C / CT
• gnomAD v2: 16-1412173-C-CT
• gnomAD v3: 16-1362172-C-CT
• gnomAD v4: 16-1362172-C-CT
• MyVariant Identifiers: chr16:g.1412173_1412174insT (hg19) ; chr16:g.1362172_1362173insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362173dup , CM000678.2:g.1362173dup	GRCh38
NC_000016.9:g.1412174dup , CM000678.1:g.1412174dup	GRCh37
NC_000016.8:g.1352175dup	NCBI36
NG_016985.1:g.15275dup
NG_033129.1:g.57532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-33dup
ENST00000529110.2:c.496-33dup	ENSP00000435349.2:n.496-33dup
ENST00000529957.6:n.470-33dup
ENST00000683366.1:c.*144-33dup	ENSP00000507283.1:n.*144-33dup
ENST00000683887.1:c.460-33dup	ENSP00000506886.1:n.460-33dup
ENST00000684100.1:n.406-33dup
ENST00000684126.1:n.470-33dup
ENST00000684688.1:n.1037-33dup
ENST00000204679.9:c.412-33dup MANE Select	ENSP00000204679.4:n.412-33dup
ENST00000204679.8:c.412-33dup	ENSP00000204679.4:n.412-33dup
ENST00000527076.1:n.1428-33dup
ENST00000527168.5:n.448-33dup
ENST00000529110.1:c.479-33dup
ENST00000529957.5:n.511-33dup
NM_032520.4:c.412-33dup	NP_115909.1:n.412-33dup
XM_017023782.1:c.460-33dup	XP_016879271.1:n.460-33dup
XM_017023783.1:c.52-33dup	XP_016879272.1:n.52-33dup
NM_032520.5:c.412-33dup MANE Select	NP_115909.1:n.412-33dup