Canonical Allele Identifier: CA2689808583

Gene: GALT

Linked Data

• gnomAD v4: 9-34647354-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647357del , CM000671.2:g.34647357del	GRCh38
NC_000009.11:g.34647354del , CM000671.1:g.34647354del	GRCh37
NC_000009.10:g.34637354del	NCBI36
NG_009029.1:g.5720del
NG_028966.1:g.173del
NG_009029.2:g.5769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+99del	ENSP00000509954.1:n.252+99del
ENST00000378842.8:c.252+99del MANE Select	ENSP00000368119.4:n.252+99del
ENST00000378842.7:c.252+99del	ENSP00000368119.3:n.252+99del
ENST00000450095.6:c.50+99del	ENSP00000401956.2:n.50+99del
ENST00000465543.6:n.591+99del
ENST00000468099.2:n.391del
ENST00000472111.5:n.293+99del
ENST00000473506.6:c.252+99del	ENSP00000432839.2:n.252+99del
ENST00000473529.5:n.299+99del
ENST00000485531.1:n.344del
ENST00000487381.5:n.377del
ENST00000489643.6:n.282+99del
ENST00000554085.5:c.252+99del	ENSP00000450419.1:n.252+99del
ENST00000554139.5:n.305+99del
ENST00000554330.5:n.249+99del
ENST00000554550.5:c.252+99del	ENSP00000451435.1:n.252+99del
ENST00000554638.5:n.375del
ENST00000554897.5:c.252+99del	ENSP00000450942.1:n.252+99del
ENST00000554944.5:n.282+99del
ENST00000555020.5:n.282+99del
ENST00000555086.5:n.256+99del
ENST00000555214.5:n.261+99del
ENST00000556157.1:n.359+99del
ENST00000556244.1:c.137-32del
ENST00000556278.1:c.252+99del	ENSP00000451792.1:n.252+99del
ENST00000556403.5:n.265+99del
ENST00000556494.5:n.284+99del
ENST00000557541.5:n.445+99del
ENST00000557706.5:n.465del
NM_000155.3:c.252+99del	NP_000146.2:n.252+99del
NM_001258332.1:c.50+99del	NP_001245261.1:n.50+99del
NM_000155.4:c.252+99del MANE Select	NP_000146.2:n.252+99del
NM_001258332.2:c.50+99del	NP_001245261.1:n.50+99del