Canonical Allele Identifier: CA2630958044

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361648-A-AAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361653_1361657dup , CM000678.2:g.1361653_1361657dup	GRCh38
NC_000016.9:g.1411654_1411658dup , CM000678.1:g.1411654_1411658dup	GRCh37
NC_000016.8:g.1351655_1351659dup	NCBI36
NG_016985.1:g.14755_14759dup
NG_033129.1:g.58052_58056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-90_278-86dup
ENST00000529110.2:c.263-90_263-86dup	ENSP00000435349.2:n.263-90_263-86dup
ENST00000529957.6:n.237-90_237-86dup
ENST00000683366.1:c.179-219_179-215dup	ENSP00000507283.1:n.179-219_179-215dup
ENST00000683887.1:c.179-42_179-38dup	ENSP00000506886.1:n.179-42_179-38dup
ENST00000684100.1:n.9_13dup
ENST00000684126.1:n.237-90_237-86dup
ENST00000684688.1:n.714_718dup
ENST00000204679.9:c.179-90_179-86dup MANE Select	ENSP00000204679.4:n.179-90_179-86dup
ENST00000204679.8:c.179-90_179-86dup	ENSP00000204679.4:n.179-90_179-86dup
ENST00000526820.5:c.*81-90_*81-86dup	ENSP00000434413.1:n.*81-90_*81-86dup
ENST00000527076.1:n.1031_1035dup
ENST00000527168.5:n.270-219_270-215dup
ENST00000529110.1:c.246-90_246-86dup
ENST00000529957.5:n.278-90_278-86dup
NM_032520.4:c.179-90_179-86dup	NP_115909.1:n.179-90_179-86dup
XM_017023782.1:c.179-42_179-38dup	XP_016879271.1:n.179-42_179-38dup
XM_017023783.1:c.-182-90_-182-86dup	XP_016879272.1:n.-182-90_-182-86dup
NM_032520.5:c.179-90_179-86dup MANE Select	NP_115909.1:n.179-90_179-86dup