Canonical Allele Identifier: CA7807933

Gene: GNPTG

Linked Data

• dbSNP Id: rs749994383
• ExAC: 16:1412829 C / CATAAAGAACT
• gnomAD v2: 16-1412829-C-CATAAAGAACT
• gnomAD v4: 16-1362828-C-CATAAAGAACT
• MyVariant Identifiers: chr16:g.1412829_1412830insATAAAGAACT (hg19) ; chr16:g.1362828_1362829insATAAAGAACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362829_1362838dup , CM000678.2:g.1362829_1362838dup	GRCh38
NC_000016.9:g.1412830_1412839dup , CM000678.1:g.1412830_1412839dup	GRCh37
NC_000016.8:g.1352831_1352840dup	NCBI36
NG_016985.1:g.15931_15940dup
NG_033129.1:g.56867_56876dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.845_854dup
ENST00000529110.2:c.830_839dup	ENSP00000435349.2:p.Ser281Ter
ENST00000529957.6:n.804_813dup
ENST00000683366.1:c.*478_*487dup	ENSP00000507283.1:n.*478_*487dup
ENST00000683887.1:c.794_803dup	ENSP00000506886.1:p.Ser269Ter
ENST00000684100.1:n.740_749dup
ENST00000684126.1:n.880_889dup
ENST00000684688.1:n.1371_1380dup
ENST00000204679.9:c.746_755dup MANE Select	ENSP00000204679.4:p.Ser253Ter
ENST00000204679.8:c.746_755dup	ENSP00000204679.4:p.Ser253Ter
ENST00000527076.1:n.1969_1978dup
ENST00000527168.5:n.913_922dup
ENST00000529957.5:n.845_854dup
NM_032520.4:c.746_755dup	NP_115909.1:p.Ser253Ter
XM_017023782.1:c.794_803dup	XP_016879271.1:p.Ser269Ter
XM_017023783.1:c.386_395dup	XP_016879272.1:p.Ser133Ter
NM_032520.5:c.746_755dup MANE Select	NP_115909.1:p.Ser253Ter