Canonical Allele Identifier: CA2630961169

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362631-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362634_1362635del , CM000678.2:g.1362634_1362635del	GRCh38
NC_000016.9:g.1412635_1412636del , CM000678.1:g.1412635_1412636del	GRCh37
NC_000016.8:g.1352636_1352637del	NCBI36
NG_016985.1:g.15736_15737del
NG_033129.1:g.57072_57073del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.732_733del
ENST00000529110.2:c.717_718del	ENSP00000435349.2:p.Leu240PhefsTer2
ENST00000529957.6:n.691_692del
ENST00000683366.1:c.*365_*366del	ENSP00000507283.1:n.*365_*366del
ENST00000683887.1:c.681_682del	ENSP00000506886.1:p.Leu228PhefsTer2
ENST00000684100.1:n.627_628del
ENST00000684126.1:n.767_768del
ENST00000684688.1:n.1258_1259del
ENST00000204679.9:c.633_634del MANE Select	ENSP00000204679.4:p.Leu212PhefsTer2
ENST00000204679.8:c.633_634del	ENSP00000204679.4:p.Leu212PhefsTer2
ENST00000527076.1:n.1856_1857del
ENST00000527168.5:n.800_801del
ENST00000529957.5:n.732_733del
NM_032520.4:c.633_634del	NP_115909.1:p.Leu212PhefsTer2
XM_017023782.1:c.681_682del	XP_016879271.1:p.Leu228PhefsTer2
XM_017023783.1:c.273_274del	XP_016879272.1:p.Leu92PhefsTer2
NM_032520.5:c.633_634del MANE Select	NP_115909.1:p.Leu212PhefsTer2