Canonical Allele Identifier: CA912994979

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412896_1412899del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362895_1362898del , CM000678.2:g.1362895_1362898del	GRCh38
NC_000016.9:g.1412896_1412899del , CM000678.1:g.1412896_1412899del	GRCh37
NC_000016.8:g.1352897_1352900del	NCBI36
NG_016985.1:g.15997_16000del
NG_033129.1:g.56807_56810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.911_914del
ENST00000529110.2:c.896_899del	ENSP00000435349.2:p.Thr299SerfsTer?
ENST00000529957.6:n.870_873del
ENST00000683366.1:c.*544_*547del	ENSP00000507283.1:n.*544_*547del
ENST00000683887.1:c.860_863del	ENSP00000506886.1:p.Thr287SerfsTer?
ENST00000684100.1:n.806_809del
ENST00000684126.1:n.946_949del
ENST00000684688.1:n.1437_1440del
ENST00000204679.9:c.812_815del MANE Select	ENSP00000204679.4:p.Thr271SerfsTer?
ENST00000204679.8:c.812_815del	ENSP00000204679.4:p.Thr271SerfsTer?
ENST00000527076.1:n.2035_2038del
ENST00000527168.5:n.979_982del
ENST00000529957.5:n.911_914del
NM_032520.4:c.812_815del	NP_115909.1:p.Thr271SerfsTer?
XM_017023782.1:c.860_863del	XP_016879271.1:p.Thr287SerfsTer?
XM_017023783.1:c.452_455del	XP_016879272.1:p.Thr151SerfsTer?
NM_032520.5:c.812_815del MANE Select	NP_115909.1:p.Thr271SerfsTer?