Canonical Allele Identifier: CA7807765

Gene: GNPTG

Linked Data

• dbSNP Id: rs758069672
• ExAC: 16:1412355 GT / G
• gnomAD v2: 16-1412355-GT-G
• gnomAD v4: 16-1362354-GT-G
• MyVariant Identifiers: chr16:g.1412356del (hg19) ; chr16:g.1362355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362355del , CM000678.2:g.1362355del	GRCh38
NC_000016.9:g.1412356del , CM000678.1:g.1412356del	GRCh37
NC_000016.8:g.1352357del	NCBI36
NG_016985.1:g.15457del
NG_033129.1:g.57350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+35del
ENST00000529110.2:c.610+35del	ENSP00000435349.2:n.610+35del
ENST00000529957.6:n.584+35del
ENST00000683366.1:c.*258+35del	ENSP00000507283.1:n.*258+35del
ENST00000683887.1:c.574+35del	ENSP00000506886.1:n.574+35del
ENST00000684100.1:n.520+35del
ENST00000684126.1:n.584+35del
ENST00000684688.1:n.1151+35del
ENST00000204679.9:c.526+35del MANE Select	ENSP00000204679.4:n.526+35del
ENST00000204679.8:c.526+35del	ENSP00000204679.4:n.526+35del
ENST00000527076.1:n.1577del
ENST00000527168.5:n.597del
ENST00000529957.5:n.625+35del
NM_032520.4:c.526+35del	NP_115909.1:n.526+35del
XM_017023782.1:c.574+35del	XP_016879271.1:n.574+35del
XM_017023783.1:c.166+35del	XP_016879272.1:n.166+35del
NM_032520.5:c.526+35del MANE Select	NP_115909.1:n.526+35del