Canonical Allele Identifier: CA2201615382

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034933255
• gnomAD v4: 16-1362781-T-TCCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362782_1362786dup , CM000678.2:g.1362782_1362786dup	GRCh38
NC_000016.9:g.1412783_1412787dup , CM000678.1:g.1412783_1412787dup	GRCh37
NC_000016.8:g.1352784_1352788dup	NCBI36
NG_016985.1:g.15884_15888dup
NG_033129.1:g.56919_56923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+40_841-39dup
ENST00000529110.2:c.825+40_826-39dup	ENSP00000435349.2:n.825+40_826-39dup
ENST00000529957.6:n.799+40_800-39dup
ENST00000683366.1:c.*473+40_*474-39dup	ENSP00000507283.1:n.*473+40_*474-39dup
ENST00000683887.1:c.789+40_790-39dup	ENSP00000506886.1:n.789+40_790-39dup
ENST00000684100.1:n.735+40_736-39dup
ENST00000684126.1:n.875+40_876-39dup
ENST00000684688.1:n.1366+40_1367-39dup
ENST00000204679.9:c.741+40_742-39dup MANE Select	ENSP00000204679.4:n.741+40_742-39dup
ENST00000204679.8:c.741+40_742-39dup	ENSP00000204679.4:n.741+40_742-39dup
ENST00000527076.1:n.1964+40_1965-39dup
ENST00000527168.5:n.908+40_909-39dup
ENST00000529957.5:n.840+40_841-39dup
NM_032520.4:c.741+40_742-39dup	NP_115909.1:n.741+40_742-39dup
XM_017023782.1:c.789+40_790-39dup	XP_016879271.1:n.789+40_790-39dup
XM_017023783.1:c.381+40_382-39dup	XP_016879272.1:n.381+40_382-39dup
NM_032520.5:c.741+40_742-39dup MANE Select	NP_115909.1:n.741+40_742-39dup