Canonical Allele Identifier: CA718227480

Gene: GNPTG

Linked Data

• dbSNP Id: rs1346052160
• gnomAD v3: 16-1361855-GCCAT-G
• gnomAD v4: 16-1361855-GCCAT-G
• MyVariant Identifiers: chr16:g.1411857_1411860del (hg19) ; chr16:g.1361856_1361859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361857_1361860del , CM000678.2:g.1361857_1361860del	GRCh38
NC_000016.9:g.1411858_1411861del , CM000678.1:g.1411858_1411861del	GRCh37
NC_000016.8:g.1351859_1351862del	NCBI36
NG_016985.1:g.14959_14962del
NG_033129.1:g.57846_57849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.333-15_333-12del
ENST00000529110.2:c.318-15_318-12del	ENSP00000435349.2:n.318-15_318-12del
ENST00000529957.6:n.292-15_292-12del
ENST00000683366.1:c.179-15_179-12del	ENSP00000507283.1:n.179-15_179-12del
ENST00000683887.1:c.282-15_282-12del	ENSP00000506886.1:n.282-15_282-12del
ENST00000684100.1:n.213_216del
ENST00000684126.1:n.292-15_292-12del
ENST00000684688.1:n.859-15_859-12del
ENST00000204679.9:c.234-15_234-12del MANE Select	ENSP00000204679.4:n.234-15_234-12del
ENST00000204679.8:c.234-15_234-12del	ENSP00000204679.4:n.234-15_234-12del
ENST00000526820.5:c.*136-15_*136-12del	ENSP00000434413.1:n.*136-15_*136-12del
ENST00000527076.1:n.1235_1238del
ENST00000527168.5:n.270-15_270-12del
ENST00000529110.1:c.301-15_301-12del
ENST00000529957.5:n.333-15_333-12del
NM_032520.4:c.234-15_234-12del	NP_115909.1:n.234-15_234-12del
XM_017023782.1:c.282-15_282-12del	XP_016879271.1:n.282-15_282-12del
XM_017023783.1:c.-127-15_-127-12del	XP_016879272.1:n.-127-15_-127-12del
NM_032520.5:c.234-15_234-12del MANE Select	NP_115909.1:n.234-15_234-12del