Canonical Allele Identifier: CA1788917723

Gene: GGH

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63026215_63026217delinsACT , CM000670.2:g.63026215_63026217delinsACT	GRCh38
NC_000008.10:g.63938774_63938776delinsACT , CM000670.1:g.63938774_63938776delinsACT	GRCh37
NC_000008.9:g.64101328_64101330delinsACT	NCBI36
NG_028126.1:g.17835_17837delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260118.7:c.440_442delinsAGT MANE Select	ENSP00000260118.6:p.Glu147=
ENST00000518113.2:c.440_442delinsAGT	ENSP00000504520.1:p.Glu147=
ENST00000518466.6:n.403_405delinsAGT
ENST00000523788.2:n.4252_4254delinsAGT
ENST00000677327.1:n.1079_1081delinsAGT
ENST00000677459.1:c.*355_*357delinsAGT	ENSP00000503731.1:n.*355_*357delinsAGT
ENST00000677482.1:c.440_442delinsAGT	ENSP00000504590.1:p.Glu147=
ENST00000677919.1:c.17_19delinsAGT	ENSP00000504579.1:p.Glu6=
ENST00000678045.1:n.1395_1397delinsAGT
ENST00000678069.1:n.3375_3377delinsAGT
ENST00000679326.1:c.440_442delinsAGT	ENSP00000504262.1:p.Glu147=
ENST00000260118.6:c.440_442delinsAGT	ENSP00000260118.6:p.Glu147=
ENST00000518113.1:n.215_217delinsAGT
ENST00000518466.5:n.17_19delinsAGT
ENST00000520609.5:n.473_475delinsAGT
NM_003878.2:c.440_442delinsAGT	NP_003869.1:p.Glu147=
XM_011517623.1:c.440_442delinsAGT	XP_011515925.1:p.Glu147=
XM_011517623.3:c.440_442delinsAGT	XP_011515925.1:p.Glu147=
NM_003878.3:c.440_442delinsAGT MANE Select	NP_003869.1:p.Glu147=