Canonical Allele Identifier: CA718229697

Gene: GNPTG

Linked Data

• dbSNP Id: rs1456419841
• gnomAD v3: 16-1362794-CT-C
• gnomAD v4: 16-1362794-CT-C
• MyVariant Identifiers: chr16:g.1412796del (hg19) ; chr16:g.1362795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362797del , CM000678.2:g.1362797del	GRCh38
NC_000016.9:g.1412798del , CM000678.1:g.1412798del	GRCh37
NC_000016.8:g.1352799del	NCBI36
NG_016985.1:g.15899del
NG_033129.1:g.56910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-28del
ENST00000529110.2:c.826-28del	ENSP00000435349.2:n.826-28del
ENST00000529957.6:n.800-28del
ENST00000683366.1:c.*474-28del	ENSP00000507283.1:n.*474-28del
ENST00000683887.1:c.790-28del	ENSP00000506886.1:n.790-28del
ENST00000684100.1:n.736-28del
ENST00000684126.1:n.876-28del
ENST00000684688.1:n.1367-28del
ENST00000204679.9:c.742-28del MANE Select	ENSP00000204679.4:n.742-28del
ENST00000204679.8:c.742-28del	ENSP00000204679.4:n.742-28del
ENST00000527076.1:n.1965-28del
ENST00000527168.5:n.909-28del
ENST00000529957.5:n.841-28del
NM_032520.4:c.742-28del	NP_115909.1:n.742-28del
XM_017023782.1:c.790-28del	XP_016879271.1:n.790-28del
XM_017023783.1:c.382-28del	XP_016879272.1:n.382-28del
NM_032520.5:c.742-28del MANE Select	NP_115909.1:n.742-28del