Canonical Allele Identifier: CA2630958736

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361858-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361860_1361861del , CM000678.2:g.1361860_1361861del	GRCh38
NC_000016.9:g.1411861_1411862del , CM000678.1:g.1411861_1411862del	GRCh37
NC_000016.8:g.1351862_1351863del	NCBI36
NG_016985.1:g.14962_14963del
NG_033129.1:g.57845_57846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-12_333-11del
ENST00000529110.2:c.318-12_318-11del	ENSP00000435349.2:n.318-12_318-11del
ENST00000529957.6:n.292-12_292-11del
ENST00000683366.1:c.179-12_179-11del	ENSP00000507283.1:n.179-12_179-11del
ENST00000683887.1:c.282-12_282-11del	ENSP00000506886.1:n.282-12_282-11del
ENST00000684100.1:n.216_217del
ENST00000684126.1:n.292-12_292-11del
ENST00000684688.1:n.859-12_859-11del
ENST00000204679.9:c.234-12_234-11del MANE Select	ENSP00000204679.4:n.234-12_234-11del
ENST00000204679.8:c.234-12_234-11del	ENSP00000204679.4:n.234-12_234-11del
ENST00000526820.5:c.*136-12_*136-11del	ENSP00000434413.1:n.*136-12_*136-11del
ENST00000527076.1:n.1238_1239del
ENST00000527168.5:n.270-12_270-11del
ENST00000529110.1:c.301-12_301-11del
ENST00000529957.5:n.333-12_333-11del
NM_032520.4:c.234-12_234-11del	NP_115909.1:n.234-12_234-11del
XM_017023782.1:c.282-12_282-11del	XP_016879271.1:n.282-12_282-11del
XM_017023783.1:c.-127-12_-127-11del	XP_016879272.1:n.-127-12_-127-11del
NM_032520.5:c.234-12_234-11del MANE Select	NP_115909.1:n.234-12_234-11del