Canonical Allele Identifier: CA620700156

Gene: GNPTG

Linked Data

• dbSNP Id: rs1468808820
• gnomAD v2: 16-1412168-CCA-C
• gnomAD v4: 16-1362167-CCA-C
• MyVariant Identifiers: chr16:g.1412169_1412170del (hg19) ; chr16:g.1362168_1362169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362168_1362169del , CM000678.2:g.1362168_1362169del	GRCh38
NC_000016.9:g.1412169_1412170del , CM000678.1:g.1412169_1412170del	GRCh37
NC_000016.8:g.1352170_1352171del	NCBI36
NG_016985.1:g.15270_15271del
NG_033129.1:g.57536_57537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-38_511-37del
ENST00000529110.2:c.496-38_496-37del	ENSP00000435349.2:n.496-38_496-37del
ENST00000529957.6:n.470-38_470-37del
ENST00000683366.1:c.*144-38_*144-37del	ENSP00000507283.1:n.*144-38_*144-37del
ENST00000683887.1:c.460-38_460-37del	ENSP00000506886.1:n.460-38_460-37del
ENST00000684100.1:n.406-38_406-37del
ENST00000684126.1:n.470-38_470-37del
ENST00000684688.1:n.1037-38_1037-37del
ENST00000204679.9:c.412-38_412-37del MANE Select	ENSP00000204679.4:n.412-38_412-37del
ENST00000204679.8:c.412-38_412-37del	ENSP00000204679.4:n.412-38_412-37del
ENST00000527076.1:n.1428-38_1428-37del
ENST00000527168.5:n.448-38_448-37del
ENST00000529110.1:c.479-38_479-37del
ENST00000529957.5:n.511-38_511-37del
NM_032520.4:c.412-38_412-37del	NP_115909.1:n.412-38_412-37del
XM_017023782.1:c.460-38_460-37del	XP_016879271.1:n.460-38_460-37del
XM_017023783.1:c.52-38_52-37del	XP_016879272.1:n.52-38_52-37del
NM_032520.5:c.412-38_412-37del MANE Select	NP_115909.1:n.412-38_412-37del