Canonical Allele Identifier: CA7807685

Gene: GNPTG

Linked Data

• dbSNP Id: rs763669202
• ExAC: 16:1412176 CCCAACCCA / C
• gnomAD v2: 16-1412176-CCCAACCCA-C
• gnomAD v4: 16-1362175-CCCAACCCA-C
• MyVariant Identifiers: chr16:g.1412177_1412184del (hg19) ; chr16:g.1362176_1362183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362178_1362185del , CM000678.2:g.1362178_1362185del	GRCh38
NC_000016.9:g.1412179_1412186del , CM000678.1:g.1412179_1412186del	GRCh37
NC_000016.8:g.1352180_1352187del	NCBI36
NG_016985.1:g.15280_15287del
NG_033129.1:g.57522_57529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-28_511-21del
ENST00000529110.2:c.496-28_496-21del	ENSP00000435349.2:n.496-28_496-21del
ENST00000529957.6:n.470-28_470-21del
ENST00000683366.1:c.*144-28_*144-21del	ENSP00000507283.1:n.*144-28_*144-21del
ENST00000683887.1:c.460-28_460-21del	ENSP00000506886.1:n.460-28_460-21del
ENST00000684100.1:n.406-28_406-21del
ENST00000684126.1:n.470-28_470-21del
ENST00000684688.1:n.1037-28_1037-21del
ENST00000204679.9:c.412-28_412-21del MANE Select	ENSP00000204679.4:n.412-28_412-21del
ENST00000204679.8:c.412-28_412-21del	ENSP00000204679.4:n.412-28_412-21del
ENST00000527076.1:n.1428-28_1428-21del
ENST00000527168.5:n.448-28_448-21del
ENST00000529110.1:c.479-28_479-21del
ENST00000529957.5:n.511-28_511-21del
NM_032520.4:c.412-28_412-21del	NP_115909.1:n.412-28_412-21del
XM_017023782.1:c.460-28_460-21del	XP_016879271.1:n.460-28_460-21del
XM_017023783.1:c.52-28_52-21del	XP_016879272.1:n.52-28_52-21del
NM_032520.5:c.412-28_412-21del MANE Select	NP_115909.1:n.412-28_412-21del