Canonical Allele Identifier: CA2630961699

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362812-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362815_1362816dup , CM000678.2:g.1362815_1362816dup	GRCh38
NC_000016.9:g.1412816_1412817dup , CM000678.1:g.1412816_1412817dup	GRCh37
NC_000016.8:g.1352817_1352818dup	NCBI36
NG_016985.1:g.15917_15918dup
NG_033129.1:g.56891_56892dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-10_841-9dup
ENST00000529110.2:c.826-10_826-9dup	ENSP00000435349.2:n.826-10_826-9dup
ENST00000529957.6:n.800-10_800-9dup
ENST00000683366.1:c.*474-10_*474-9dup	ENSP00000507283.1:n.*474-10_*474-9dup
ENST00000683887.1:c.790-10_790-9dup	ENSP00000506886.1:n.790-10_790-9dup
ENST00000684100.1:n.736-10_736-9dup
ENST00000684126.1:n.876-10_876-9dup
ENST00000684688.1:n.1367-10_1367-9dup
ENST00000204679.9:c.742-10_742-9dup MANE Select	ENSP00000204679.4:n.742-10_742-9dup
ENST00000204679.8:c.742-10_742-9dup	ENSP00000204679.4:n.742-10_742-9dup
ENST00000527076.1:n.1965-10_1965-9dup
ENST00000527168.5:n.909-10_909-9dup
ENST00000529957.5:n.841-10_841-9dup
NM_032520.4:c.742-10_742-9dup	NP_115909.1:n.742-10_742-9dup
XM_017023782.1:c.790-10_790-9dup	XP_016879271.1:n.790-10_790-9dup
XM_017023783.1:c.382-10_382-9dup	XP_016879272.1:n.382-10_382-9dup
NM_032520.5:c.742-10_742-9dup MANE Select	NP_115909.1:n.742-10_742-9dup