Canonical Allele Identifier: CA2201615031

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362303_1362304delinsAC , CM000678.2:g.1362303_1362304delinsAC	GRCh38
NC_000016.9:g.1412304_1412305delinsAC , CM000678.1:g.1412304_1412305delinsAC	GRCh37
NC_000016.8:g.1352305_1352306delinsAC	NCBI36
NG_016985.1:g.15405_15406delinsAC
NG_033129.1:g.57401_57402delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.608_609delinsAC
ENST00000529110.2:c.593_594delinsAC	ENSP00000435349.2:p.His198=
ENST00000529957.6:n.567_568delinsAC
ENST00000683366.1:c.*241_*242delinsAC	ENSP00000507283.1:n.*241_*242delinsAC
ENST00000683887.1:c.557_558delinsAC	ENSP00000506886.1:p.His186=
ENST00000684100.1:n.503_504delinsAC
ENST00000684126.1:n.567_568delinsAC
ENST00000684688.1:n.1134_1135delinsAC
ENST00000204679.9:c.509_510delinsAC MANE Select	ENSP00000204679.4:p.His170=
ENST00000204679.8:c.509_510delinsAC	ENSP00000204679.4:p.His170=
ENST00000527076.1:n.1525_1526delinsAC
ENST00000527168.5:n.545_546delinsAC
ENST00000529957.5:n.608_609delinsAC
NM_032520.4:c.509_510delinsAC	NP_115909.1:p.His170=
XM_017023782.1:c.557_558delinsAC	XP_016879271.1:p.His186=
XM_017023783.1:c.149_150delinsAC	XP_016879272.1:p.His50=
NM_032520.5:c.509_510delinsAC MANE Select	NP_115909.1:p.His170=