Canonical Allele Identifier: CA620700263

Gene: GNPTG

Linked Data

• dbSNP Id: rs1383134639
• gnomAD v2: 16-1412855-AAGGCT-A
• gnomAD v4: 16-1362854-AAGGCT-A
• MyVariant Identifiers: chr16:g.1412856_1412860del (hg19) ; chr16:g.1362855_1362859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362855_1362859del , CM000678.2:g.1362855_1362859del	GRCh38
NC_000016.9:g.1412856_1412860del , CM000678.1:g.1412856_1412860del	GRCh37
NC_000016.8:g.1352857_1352861del	NCBI36
NG_016985.1:g.15957_15961del
NG_033129.1:g.56846_56850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.871_875del
ENST00000529110.2:c.856_860del	ENSP00000435349.2:p.Arg286GlufsTer?
ENST00000529957.6:n.830_834del
ENST00000683366.1:c.*504_*508del	ENSP00000507283.1:n.*504_*508del
ENST00000683887.1:c.820_824del	ENSP00000506886.1:p.Arg274GlufsTer?
ENST00000684100.1:n.766_770del
ENST00000684126.1:n.906_910del
ENST00000684688.1:n.1397_1401del
ENST00000204679.9:c.772_776del MANE Select	ENSP00000204679.4:p.Arg258GlufsTer?
ENST00000204679.8:c.772_776del	ENSP00000204679.4:p.Arg258GlufsTer?
ENST00000527076.1:n.1995_1999del
ENST00000527168.5:n.939_943del
ENST00000529957.5:n.871_875del
NM_032520.4:c.772_776del	NP_115909.1:p.Arg258GlufsTer?
XM_017023782.1:c.820_824del	XP_016879271.1:p.Arg274GlufsTer?
XM_017023783.1:c.412_416del	XP_016879272.1:p.Arg138GlufsTer?
NM_032520.5:c.772_776del MANE Select	NP_115909.1:p.Arg258GlufsTer?