Canonical Allele Identifier: CA276658997

Gene: GNPTG

Linked Data

• dbSNP Id: rs969101852
• gnomAD v3: 16-1362759-A-AGGT
• gnomAD v4: 16-1362759-A-AGGT
• MyVariant Identifiers: chr16:g.1412760_1412761insGGT (hg19) ; chr16:g.1362759_1362760insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362765_1362767dup , CM000678.2:g.1362765_1362767dup	GRCh38
NC_000016.9:g.1412766_1412768dup , CM000678.1:g.1412766_1412768dup	GRCh37
NC_000016.8:g.1352767_1352769dup	NCBI36
NG_016985.1:g.15867_15869dup
NG_033129.1:g.56943_56945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+23_840+25dup
ENST00000529110.2:c.825+23_825+25dup	ENSP00000435349.2:n.825+23_825+25dup
ENST00000529957.6:n.799+23_799+25dup
ENST00000683366.1:c.*473+23_*473+25dup	ENSP00000507283.1:n.*473+23_*473+25dup
ENST00000683887.1:c.789+23_789+25dup	ENSP00000506886.1:n.789+23_789+25dup
ENST00000684100.1:n.735+23_735+25dup
ENST00000684126.1:n.875+23_875+25dup
ENST00000684688.1:n.1366+23_1366+25dup
ENST00000204679.9:c.741+23_741+25dup MANE Select	ENSP00000204679.4:n.741+23_741+25dup
ENST00000204679.8:c.741+23_741+25dup	ENSP00000204679.4:n.741+23_741+25dup
ENST00000527076.1:n.1964+23_1964+25dup
ENST00000527168.5:n.908+23_908+25dup
ENST00000529957.5:n.840+23_840+25dup
NM_032520.4:c.741+23_741+25dup	NP_115909.1:n.741+23_741+25dup
XM_017023782.1:c.789+23_789+25dup	XP_016879271.1:n.789+23_789+25dup
XM_017023783.1:c.381+23_381+25dup	XP_016879272.1:n.381+23_381+25dup
NM_032520.5:c.741+23_741+25dup MANE Select	NP_115909.1:n.741+23_741+25dup