Canonical Allele Identifier: CA2689809624

Gene: GALT

Linked Data

• gnomAD v4: 9-34648874-T-TGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648875_34648877dup , CM000671.2:g.34648875_34648877dup	GRCh38
NC_000009.11:g.34648872_34648874dup , CM000671.1:g.34648872_34648874dup	GRCh37
NC_000009.10:g.34638872_34638874dup	NCBI36
NG_009029.1:g.7238_7240dup
NG_028966.1:g.1691_1693dup
NG_009029.2:g.7287_7289dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*389_*391dup	ENSP00000509954.1:n.*389_*391dup
ENST00000378842.8:c.801_803dup MANE Select	ENSP00000368119.4:p.Thr268_Pro269insThr
ENST00000378842.7:c.801_803dup	ENSP00000368119.3:p.Thr268_Pro269insThr
ENST00000450095.6:c.474_476dup	ENSP00000401956.2:p.Thr159_Pro160insThr
ENST00000473506.6:c.*389_*391dup	ENSP00000432839.2:n.*389_*391dup
ENST00000489643.6:n.881_883dup
ENST00000554085.5:c.*545_*547dup	ENSP00000450419.1:n.*545_*547dup
ENST00000554550.5:c.*421_*423dup	ENSP00000451435.1:n.*421_*423dup
ENST00000554638.5:n.1273_1275dup
ENST00000555020.5:n.1262_1264dup
ENST00000555086.5:n.805_807dup
ENST00000555754.1:n.146_148dup
ENST00000556244.1:c.788_790dup
ENST00000556278.1:c.432+419_432+421dup	ENSP00000451792.1:n.432+419_432+421dup
ENST00000557706.5:n.1363_1365dup
NM_000155.3:c.801_803dup	NP_000146.2:p.Thr268_Pro269insThr
NM_001258332.1:c.474_476dup	NP_001245261.1:p.Thr159_Pro160insThr
NM_000155.4:c.801_803dup MANE Select	NP_000146.2:p.Thr268_Pro269insThr
NM_001258332.2:c.474_476dup	NP_001245261.1:p.Thr159_Pro160insThr