Canonical Allele Identifier: CA2201615460

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362895_1362898delinsCGAG , CM000678.2:g.1362895_1362898delinsCGAG	GRCh38
NC_000016.9:g.1412896_1412899delinsCGAG , CM000678.1:g.1412896_1412899delinsCGAG	GRCh37
NC_000016.8:g.1352897_1352900delinsCGAG	NCBI36
NG_016985.1:g.15997_16000delinsCGAG
NG_033129.1:g.56807_56810delinsCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.911_914delinsCGAG
ENST00000529110.2:c.896_899delinsCGAG	ENSP00000435349.2:p.Thr299=
ENST00000529957.6:n.870_873delinsCGAG
ENST00000683366.1:c.*544_*547delinsCGAG	ENSP00000507283.1:n.*544_*547delinsCGAG
ENST00000683887.1:c.860_863delinsCGAG	ENSP00000506886.1:p.Thr287=
ENST00000684100.1:n.806_809delinsCGAG
ENST00000684126.1:n.946_949delinsCGAG
ENST00000684688.1:n.1437_1440delinsCGAG
ENST00000204679.9:c.812_815delinsCGAG MANE Select	ENSP00000204679.4:p.Thr271=
ENST00000204679.8:c.812_815delinsCGAG	ENSP00000204679.4:p.Thr271=
ENST00000527076.1:n.2035_2038delinsCGAG
ENST00000527168.5:n.979_982delinsCGAG
ENST00000529957.5:n.911_914delinsCGAG
NM_032520.4:c.812_815delinsCGAG	NP_115909.1:p.Thr271=
XM_017023782.1:c.860_863delinsCGAG	XP_016879271.1:p.Thr287=
XM_017023783.1:c.452_455delinsCGAG	XP_016879272.1:p.Thr151=
NM_032520.5:c.812_815delinsCGAG MANE Select	NP_115909.1:p.Thr271=