Canonical Allele Identifier: CA2630962445

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1363028-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1363029_1363030del , CM000678.2:g.1363029_1363030del	GRCh38
NC_000016.9:g.1413030_1413031del , CM000678.1:g.1413030_1413031del	GRCh37
NC_000016.8:g.1353031_1353032del	NCBI36
NG_016985.1:g.16131_16132del
NG_033129.1:g.56675_56676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.955_956del
ENST00000529110.2:c.940_941del	ENSP00000435349.2:p.Thr314AlafsTer12
ENST00000529957.6:n.914_915del
ENST00000683366.1:c.*588_*589del	ENSP00000507283.1:n.*588_*589del
ENST00000683887.1:c.904_905del	ENSP00000506886.1:p.Thr302AlafsTer12
ENST00000684100.1:n.850_851del
ENST00000684126.1:n.990_991del
ENST00000684688.1:n.1481_1482del
ENST00000204679.9:c.856_857del MANE Select	ENSP00000204679.4:p.Thr286AlafsTer12
ENST00000204679.8:c.856_857del	ENSP00000204679.4:p.Thr286AlafsTer12
ENST00000527076.1:n.2079_2080del
ENST00000527168.5:n.1023_1024del
NM_032520.4:c.856_857del	NP_115909.1:p.Thr286AlafsTer12
XM_017023782.1:c.904_905del	XP_016879271.1:p.Thr302AlafsTer12
XM_017023783.1:c.496_497del	XP_016879272.1:p.Thr166AlafsTer12
NM_032520.5:c.856_857del MANE Select	NP_115909.1:p.Thr286AlafsTer12