Canonical Allele Identifier: CA1845641668

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649551_34649552delinsTC , CM000671.2:g.34649551_34649552delinsTC	GRCh38
NC_000009.11:g.34649548_34649549delinsTC , CM000671.1:g.34649548_34649549delinsTC	GRCh37
NC_000009.10:g.34639548_34639549delinsTC	NCBI36
NG_009029.1:g.7914_7915delinsTC
NG_028966.1:g.2367_2368delinsTC
NG_009029.2:g.7963_7964delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*634_*635delinsTC	ENSP00000509954.1:n.*634_*635delinsTC
ENST00000378842.8:c.1046_1047delinsTC MANE Select	ENSP00000368119.4:p.Leu349=
ENST00000378842.7:c.1046_1047delinsTC	ENSP00000368119.3:p.Leu349=
ENST00000450095.6:c.719_720delinsTC	ENSP00000401956.2:p.Leu240=
ENST00000488412.2:n.630_631delinsTC
ENST00000489643.6:n.1454_1455delinsTC
ENST00000554550.5:c.*666_*667delinsTC	ENSP00000451435.1:n.*666_*667delinsTC
ENST00000554638.5:n.1518_1519delinsTC
ENST00000555020.5:n.1835_1836delinsTC
ENST00000555754.1:n.494_495delinsTC
ENST00000556278.1:c.432+1095_432+1096delinsTC	ENSP00000451792.1:n.432+1095_432+1096delinsTC
ENST00000557706.5:n.1621_1622delinsTC
NM_000155.3:c.1046_1047delinsTC	NP_000146.2:p.Leu349=
NM_001258332.1:c.719_720delinsTC	NP_001245261.1:p.Leu240=
NM_000155.4:c.1046_1047delinsTC MANE Select	NP_000146.2:p.Leu349=
NM_001258332.2:c.719_720delinsTC	NP_001245261.1:p.Leu240=