Canonical Allele Identifier: CA620700237

Gene: GNPTG

Linked Data

• dbSNP Id: rs1257480594
• gnomAD v2: 16-1412787-C-CA
• gnomAD v3: 16-1362786-C-CA
• gnomAD v4: 16-1362786-C-CA
• MyVariant Identifiers: chr16:g.1412787_1412788insA (hg19) ; chr16:g.1362786_1362787insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362787dup , CM000678.2:g.1362787dup	GRCh38
NC_000016.9:g.1412788dup , CM000678.1:g.1412788dup	GRCh37
NC_000016.8:g.1352789dup	NCBI36
NG_016985.1:g.15889dup
NG_033129.1:g.56918dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-38dup
ENST00000529110.2:c.826-38dup	ENSP00000435349.2:n.826-38dup
ENST00000529957.6:n.800-38dup
ENST00000683366.1:c.*474-38dup	ENSP00000507283.1:n.*474-38dup
ENST00000683887.1:c.790-38dup	ENSP00000506886.1:n.790-38dup
ENST00000684100.1:n.736-38dup
ENST00000684126.1:n.876-38dup
ENST00000684688.1:n.1367-38dup
ENST00000204679.9:c.742-38dup MANE Select	ENSP00000204679.4:n.742-38dup
ENST00000204679.8:c.742-38dup	ENSP00000204679.4:n.742-38dup
ENST00000527076.1:n.1965-38dup
ENST00000527168.5:n.909-38dup
ENST00000529957.5:n.841-38dup
NM_032520.4:c.742-38dup	NP_115909.1:n.742-38dup
XM_017023782.1:c.790-38dup	XP_016879271.1:n.790-38dup
XM_017023783.1:c.382-38dup	XP_016879272.1:n.382-38dup
NM_032520.5:c.742-38dup MANE Select	NP_115909.1:n.742-38dup