Canonical Allele Identifier: CA1845638658

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648364_34648365delinsGC , CM000671.2:g.34648364_34648365delinsGC	GRCh38
NC_000009.11:g.34648361_34648362delinsGC , CM000671.1:g.34648361_34648362delinsGC	GRCh37
NC_000009.10:g.34638361_34638362delinsGC	NCBI36
NG_009029.1:g.6727_6728delinsGC
NG_028966.1:g.1180_1181delinsGC
NG_009029.2:g.6776_6777delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*183_*184delinsGC	ENSP00000509954.1:n.*183_*184delinsGC
ENST00000378842.8:c.595_596delinsGC MANE Select	ENSP00000368119.4:p.Ala199=
ENST00000378842.7:c.595_596delinsGC	ENSP00000368119.3:p.Ala199=
ENST00000450095.6:c.268_269delinsGC	ENSP00000401956.2:p.Ala90=
ENST00000472111.5:n.851_852delinsGC
ENST00000473506.6:c.*183_*184delinsGC	ENSP00000432839.2:n.*183_*184delinsGC
ENST00000473529.5:n.754_755delinsGC
ENST00000485531.1:n.1189_1190delinsGC
ENST00000487381.5:n.980_981delinsGC
ENST00000489643.6:n.370_371delinsGC
ENST00000554085.5:c.*339_*340delinsGC	ENSP00000450419.1:n.*339_*340delinsGC
ENST00000554139.5:n.841_842delinsGC
ENST00000554550.5:c.*215_*216delinsGC	ENSP00000451435.1:n.*215_*216delinsGC
ENST00000554638.5:n.1067_1068delinsGC
ENST00000554897.5:c.*282_*283delinsGC	ENSP00000450942.1:n.*282_*283delinsGC
ENST00000554944.5:n.944_945delinsGC
ENST00000555020.5:n.751_752delinsGC
ENST00000555086.5:n.599_600delinsGC
ENST00000555214.5:n.416_417delinsGC
ENST00000556244.1:c.582_583delinsGC
ENST00000556278.1:c.340_341delinsGC	ENSP00000451792.1:p.Ala114=
ENST00000556494.5:n.716_717delinsGC
ENST00000557706.5:n.1157_1158delinsGC
NM_000155.3:c.595_596delinsGC	NP_000146.2:p.Ala199=
NM_001258332.1:c.268_269delinsGC	NP_001245261.1:p.Ala90=
NM_000155.4:c.595_596delinsGC MANE Select	NP_000146.2:p.Ala199=
NM_001258332.2:c.268_269delinsGC	NP_001245261.1:p.Ala90=