Canonical Allele Identifier: CA2630961640

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362795-T-TTTCCCTTGAACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362798_1362810dup , CM000678.2:g.1362798_1362810dup	GRCh38
NC_000016.9:g.1412799_1412811dup , CM000678.1:g.1412799_1412811dup	GRCh37
NC_000016.8:g.1352800_1352812dup	NCBI36
NG_016985.1:g.15900_15912dup
NG_033129.1:g.56897_56909dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-27_841-15dup
ENST00000529110.2:c.826-27_826-15dup	ENSP00000435349.2:n.826-27_826-15dup
ENST00000529957.6:n.800-27_800-15dup
ENST00000683366.1:c.*474-27_*474-15dup	ENSP00000507283.1:n.*474-27_*474-15dup
ENST00000683887.1:c.790-27_790-15dup	ENSP00000506886.1:n.790-27_790-15dup
ENST00000684100.1:n.736-27_736-15dup
ENST00000684126.1:n.876-27_876-15dup
ENST00000684688.1:n.1367-27_1367-15dup
ENST00000204679.9:c.742-27_742-15dup MANE Select	ENSP00000204679.4:n.742-27_742-15dup
ENST00000204679.8:c.742-27_742-15dup	ENSP00000204679.4:n.742-27_742-15dup
ENST00000527076.1:n.1965-27_1965-15dup
ENST00000527168.5:n.909-27_909-15dup
ENST00000529957.5:n.841-27_841-15dup
NM_032520.4:c.742-27_742-15dup	NP_115909.1:n.742-27_742-15dup
XM_017023782.1:c.790-27_790-15dup	XP_016879271.1:n.790-27_790-15dup
XM_017023783.1:c.382-27_382-15dup	XP_016879272.1:n.382-27_382-15dup
NM_032520.5:c.742-27_742-15dup MANE Select	NP_115909.1:n.742-27_742-15dup