Canonical Allele Identifier: CA2201614916

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362237_1362238delinsTG , CM000678.2:g.1362237_1362238delinsTG	GRCh38
NC_000016.9:g.1412238_1412239delinsTG , CM000678.1:g.1412238_1412239delinsTG	GRCh37
NC_000016.8:g.1352239_1352240delinsTG	NCBI36
NG_016985.1:g.15339_15340delinsTG
NG_033129.1:g.57467_57468delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.542_543delinsTG
ENST00000529110.2:c.527_528delinsTG	ENSP00000435349.2:p.Leu176=
ENST00000529957.6:n.501_502delinsTG
ENST00000683366.1:c.*175_*176delinsTG	ENSP00000507283.1:n.*175_*176delinsTG
ENST00000683887.1:c.491_492delinsTG	ENSP00000506886.1:p.Leu164=
ENST00000684100.1:n.437_438delinsTG
ENST00000684126.1:n.501_502delinsTG
ENST00000684688.1:n.1068_1069delinsTG
ENST00000204679.9:c.443_444delinsTG MANE Select	ENSP00000204679.4:p.Leu148=
ENST00000204679.8:c.443_444delinsTG	ENSP00000204679.4:p.Leu148=
ENST00000527076.1:n.1459_1460delinsTG
ENST00000527168.5:n.479_480delinsTG
ENST00000529110.1:c.510_511delinsTG
ENST00000529957.5:n.542_543delinsTG
NM_032520.4:c.443_444delinsTG	NP_115909.1:p.Leu148=
XM_017023782.1:c.491_492delinsTG	XP_016879271.1:p.Leu164=
XM_017023783.1:c.83_84delinsTG	XP_016879272.1:p.Leu28=
NM_032520.5:c.443_444delinsTG MANE Select	NP_115909.1:p.Leu148=