Canonical Allele Identifier: CA2575866956

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362821del , CM000678.2:g.1362821del	GRCh38
NC_000016.9:g.1412822del , CM000678.1:g.1412822del	GRCh37
NC_000016.8:g.1352823del	NCBI36
NG_016985.1:g.15923del
NG_033129.1:g.56885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-4del
ENST00000529110.2:c.826-4del	ENSP00000435349.2:n.826-4del
ENST00000529957.6:n.800-4del
ENST00000683366.1:c.*474-4del	ENSP00000507283.1:n.*474-4del
ENST00000683887.1:c.790-4del	ENSP00000506886.1:n.790-4del
ENST00000684100.1:n.736-4del
ENST00000684126.1:n.876-4del
ENST00000684688.1:n.1367-4del
ENST00000204679.9:c.742-4del MANE Select	ENSP00000204679.4:n.742-4del
ENST00000204679.8:c.742-4del	ENSP00000204679.4:n.742-4del
ENST00000527076.1:n.1965-4del
ENST00000527168.5:n.909-4del
ENST00000529957.5:n.841-4del
NM_032520.4:c.742-4del	NP_115909.1:n.742-4del
XM_017023782.1:c.790-4del	XP_016879271.1:n.790-4del
XM_017023783.1:c.382-4del	XP_016879272.1:n.382-4del
NM_032520.5:c.742-4del MANE Select	NP_115909.1:n.742-4del