Canonical Allele Identifier: CA718227483

Gene: GNPTG

Linked Data

• dbSNP Id: rs1302912834
• MyVariant Identifiers: chr16:g.1411857_1411867del (hg19) ; chr16:g.1361856_1361866del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361858_1361868del , CM000678.2:g.1361858_1361868del	GRCh38
NC_000016.9:g.1411859_1411869del , CM000678.1:g.1411859_1411869del	GRCh37
NC_000016.8:g.1351860_1351870del	NCBI36
NG_016985.1:g.14960_14970del
NG_033129.1:g.57839_57849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-14_333-4del
ENST00000529110.2:c.318-14_318-4del	ENSP00000435349.2:n.318-14_318-4del
ENST00000529957.6:n.292-14_292-4del
ENST00000683366.1:c.179-14_179-4del	ENSP00000507283.1:n.179-14_179-4del
ENST00000683887.1:c.282-14_282-4del	ENSP00000506886.1:n.282-14_282-4del
ENST00000684100.1:n.214_224del
ENST00000684126.1:n.292-14_292-4del
ENST00000684688.1:n.859-14_859-4del
ENST00000204679.9:c.234-14_234-4del MANE Select	ENSP00000204679.4:n.234-14_234-4del
ENST00000204679.8:c.234-14_234-4del	ENSP00000204679.4:n.234-14_234-4del
ENST00000526820.5:c.*136-14_*136-4del	ENSP00000434413.1:n.*136-14_*136-4del
ENST00000527076.1:n.1236_1246del
ENST00000527168.5:n.270-14_270-4del
ENST00000529110.1:c.301-14_301-4del
ENST00000529957.5:n.333-14_333-4del
NM_032520.4:c.234-14_234-4del	NP_115909.1:n.234-14_234-4del
XM_017023782.1:c.282-14_282-4del	XP_016879271.1:n.282-14_282-4del
XM_017023783.1:c.-127-14_-127-4del	XP_016879272.1:n.-127-14_-127-4del
NM_032520.5:c.234-14_234-4del MANE Select	NP_115909.1:n.234-14_234-4del