Canonical Allele Identifier: CA2630961530

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362743-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362744_1362745del , CM000678.2:g.1362744_1362745del	GRCh38
NC_000016.9:g.1412745_1412746del , CM000678.1:g.1412745_1412746del	GRCh37
NC_000016.8:g.1352746_1352747del	NCBI36
NG_016985.1:g.15846_15847del
NG_033129.1:g.56960_56961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+2_840+3del
ENST00000529110.2:c.825+2_825+3del	ENSP00000435349.2:n.825+2_825+3del
ENST00000529957.6:n.799+2_799+3del
ENST00000683366.1:c.*473+2_*473+3del	ENSP00000507283.1:n.*473+2_*473+3del
ENST00000683887.1:c.789+2_789+3del	ENSP00000506886.1:n.789+2_789+3del
ENST00000684100.1:n.735+2_735+3del
ENST00000684126.1:n.875+2_875+3del
ENST00000684688.1:n.1366+2_1366+3del
ENST00000204679.9:c.741+2_741+3del MANE Select	ENSP00000204679.4:n.741+2_741+3del
ENST00000204679.8:c.741+2_741+3del	ENSP00000204679.4:n.741+2_741+3del
ENST00000527076.1:n.1964+2_1964+3del
ENST00000527168.5:n.908+2_908+3del
ENST00000529957.5:n.840+2_840+3del
NM_032520.4:c.741+2_741+3del	NP_115909.1:n.741+2_741+3del
XM_017023782.1:c.789+2_789+3del	XP_016879271.1:n.789+2_789+3del
XM_017023783.1:c.381+2_381+3del	XP_016879272.1:n.381+2_381+3del
NM_032520.5:c.741+2_741+3del MANE Select	NP_115909.1:n.741+2_741+3del