Canonical Allele Identifier: CA2201614807

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362175_1362183delinsCCCAACCCA , CM000678.2:g.1362175_1362183delinsCCCAACCCA	GRCh38
NC_000016.9:g.1412176_1412184delinsCCCAACCCA , CM000678.1:g.1412176_1412184delinsCCCAACCCA	GRCh37
NC_000016.8:g.1352177_1352185delinsCCCAACCCA	NCBI36
NG_016985.1:g.15277_15285delinsCCCAACCCA
NG_033129.1:g.57522_57530delinsTGGGTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-31_511-23delinsCCCAACCCA
ENST00000529110.2:c.496-31_496-23delinsCCCAACCCA	ENSP00000435349.2:n.496-31_496-23delinsCCCAACCCA
ENST00000529957.6:n.470-31_470-23delinsCCCAACCCA
ENST00000683366.1:c.*144-31_*144-23delinsCCCAACCCA	ENSP00000507283.1:n.*144-31_*144-23delinsCCCAACCCA
ENST00000683887.1:c.460-31_460-23delinsCCCAACCCA	ENSP00000506886.1:n.460-31_460-23delinsCCCAACCCA
ENST00000684100.1:n.406-31_406-23delinsCCCAACCCA
ENST00000684126.1:n.470-31_470-23delinsCCCAACCCA
ENST00000684688.1:n.1037-31_1037-23delinsCCCAACCCA
ENST00000204679.9:c.412-31_412-23delinsCCCAACCCA MANE Select	ENSP00000204679.4:n.412-31_412-23delinsCCCAACCCA
ENST00000204679.8:c.412-31_412-23delinsCCCAACCCA	ENSP00000204679.4:n.412-31_412-23delinsCCCAACCCA
ENST00000527076.1:n.1428-31_1428-23delinsCCCAACCCA
ENST00000527168.5:n.448-31_448-23delinsCCCAACCCA
ENST00000529110.1:c.479-31_479-23delinsCCCAACCCA
ENST00000529957.5:n.511-31_511-23delinsCCCAACCCA
NM_032520.4:c.412-31_412-23delinsCCCAACCCA	NP_115909.1:n.412-31_412-23delinsCCCAACCCA
XM_017023782.1:c.460-31_460-23delinsCCCAACCCA	XP_016879271.1:n.460-31_460-23delinsCCCAACCCA
XM_017023783.1:c.52-31_52-23delinsCCCAACCCA	XP_016879272.1:n.52-31_52-23delinsCCCAACCCA
NM_032520.5:c.412-31_412-23delinsCCCAACCCA MANE Select	NP_115909.1:n.412-31_412-23delinsCCCAACCCA