Canonical Allele Identifier: CA7807972

Gene: GNPTG

Linked Data

• dbSNP Id: rs757281786
• ExAC: 16:1412947 A / ACT
• gnomAD v2: 16-1412947-A-ACT
• gnomAD v3: 16-1362946-A-ACT
• gnomAD v4: 16-1362946-A-ACT
• MyVariant Identifiers: chr16:g.1412947_1412948insCT (hg19) ; chr16:g.1362946_1362947insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362948_1362949dup , CM000678.2:g.1362948_1362949dup	GRCh38
NC_000016.9:g.1412949_1412950dup , CM000678.1:g.1412949_1412950dup	GRCh37
NC_000016.8:g.1352950_1352951dup	NCBI36
NG_016985.1:g.16050_16051dup
NG_033129.1:g.56757_56758dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+42_922+43dup
ENST00000529110.2:c.907+42_907+43dup	ENSP00000435349.2:n.907+42_907+43dup
ENST00000529957.6:n.881+42_881+43dup
ENST00000683366.1:c.*555+42_*555+43dup	ENSP00000507283.1:n.*555+42_*555+43dup
ENST00000683887.1:c.871+42_871+43dup	ENSP00000506886.1:n.871+42_871+43dup
ENST00000684100.1:n.817+42_817+43dup
ENST00000684126.1:n.957+42_957+43dup
ENST00000684688.1:n.1448+42_1448+43dup
ENST00000204679.9:c.823+42_823+43dup MANE Select	ENSP00000204679.4:n.823+42_823+43dup
ENST00000204679.8:c.823+42_823+43dup	ENSP00000204679.4:n.823+42_823+43dup
ENST00000527076.1:n.2046+42_2046+43dup
ENST00000527168.5:n.990+42_990+43dup
NM_032520.4:c.823+42_823+43dup	NP_115909.1:n.823+42_823+43dup
XM_017023782.1:c.871+42_871+43dup	XP_016879271.1:n.871+42_871+43dup
XM_017023783.1:c.463+42_463+43dup	XP_016879272.1:n.463+42_463+43dup
NM_032520.5:c.823+42_823+43dup MANE Select	NP_115909.1:n.823+42_823+43dup