Canonical Allele Identifier: CA2695210535

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649506_34649507delinsT , CM000671.2:g.34649506_34649507delinsT	GRCh38
NC_000009.11:g.34649503_34649504delinsT , CM000671.1:g.34649503_34649504delinsT	GRCh37
NC_000009.10:g.34639503_34639504delinsT	NCBI36
NG_009029.1:g.7869_7870delinsT
NG_028966.1:g.2322_2323delinsT
NG_009029.2:g.7918_7919delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*589_*590delinsT	ENSP00000509954.1:n.*589_*590delinsT
ENST00000378842.8:c.1001_1002delinsT MANE Select	ENSP00000368119.4:p.Lys334IlefsTer25
ENST00000378842.7:c.1001_1002delinsT	ENSP00000368119.3:p.Lys334IlefsTer25
ENST00000450095.6:c.674_675delinsT	ENSP00000401956.2:p.Lys225IlefsTer25
ENST00000488412.2:n.585_586delinsT
ENST00000489643.6:n.1409_1410delinsT
ENST00000554550.5:c.*621_*622delinsT	ENSP00000451435.1:n.*621_*622delinsT
ENST00000554638.5:n.1473_1474delinsT
ENST00000555020.5:n.1790_1791delinsT
ENST00000555754.1:n.449_450delinsT
ENST00000556278.1:c.432+1050_432+1051delinsT	ENSP00000451792.1:n.432+1050_432+1051delinsT
ENST00000557706.5:n.1576_1577delinsT
NM_000155.3:c.1001_1002delinsT	NP_000146.2:p.Lys334IlefsTer25
NM_001258332.1:c.674_675delinsT	NP_001245261.1:p.Lys225IlefsTer25
NM_000155.4:c.1001_1002delinsT MANE Select	NP_000146.2:p.Lys334IlefsTer25
NM_001258332.2:c.674_675delinsT	NP_001245261.1:p.Lys225IlefsTer25