Canonical Allele Identifier: CA2630958708

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361850-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361851del , CM000678.2:g.1361851del	GRCh38
NC_000016.9:g.1411852del , CM000678.1:g.1411852del	GRCh37
NC_000016.8:g.1351853del	NCBI36
NG_016985.1:g.14953del
NG_033129.1:g.57854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-21del
ENST00000529110.2:c.318-21del	ENSP00000435349.2:n.318-21del
ENST00000529957.6:n.292-21del
ENST00000683366.1:c.179-21del	ENSP00000507283.1:n.179-21del
ENST00000683887.1:c.282-21del	ENSP00000506886.1:n.282-21del
ENST00000684100.1:n.207del
ENST00000684126.1:n.292-21del
ENST00000684688.1:n.859-21del
ENST00000204679.9:c.234-21del MANE Select	ENSP00000204679.4:n.234-21del
ENST00000204679.8:c.234-21del	ENSP00000204679.4:n.234-21del
ENST00000526820.5:c.*136-21del	ENSP00000434413.1:n.*136-21del
ENST00000527076.1:n.1229del
ENST00000527168.5:n.270-21del
ENST00000529110.1:c.301-21del
ENST00000529957.5:n.333-21del
NM_032520.4:c.234-21del	NP_115909.1:n.234-21del
XM_017023782.1:c.282-21del	XP_016879271.1:n.282-21del
XM_017023783.1:c.-127-21del	XP_016879272.1:n.-127-21del
NM_032520.5:c.234-21del MANE Select	NP_115909.1:n.234-21del