Canonical Allele Identifier: CA2689808591

Gene: GALT

Linked Data

• gnomAD v4: 9-34647373-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647378del , CM000671.2:g.34647378del	GRCh38
NC_000009.11:g.34647375del , CM000671.1:g.34647375del	GRCh37
NC_000009.10:g.34637375del	NCBI36
NG_009029.1:g.5741del
NG_028966.1:g.194del
NG_009029.2:g.5790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-114del	ENSP00000509954.1:n.253-114del
ENST00000378842.8:c.253-114del MANE Select	ENSP00000368119.4:n.253-114del
ENST00000378842.7:c.253-114del	ENSP00000368119.3:n.253-114del
ENST00000450095.6:c.50+120del	ENSP00000401956.2:n.50+120del
ENST00000465543.6:n.592-114del
ENST00000468099.2:n.412del
ENST00000472111.5:n.294-114del
ENST00000473506.6:c.252+120del	ENSP00000432839.2:n.252+120del
ENST00000473529.5:n.300-114del
ENST00000485531.1:n.365del
ENST00000487381.5:n.398del
ENST00000489643.6:n.282+120del
ENST00000554085.5:c.253-97del	ENSP00000450419.1:n.253-97del
ENST00000554139.5:n.306-114del
ENST00000554330.5:n.249+120del
ENST00000554550.5:c.252+120del	ENSP00000451435.1:n.252+120del
ENST00000554638.5:n.396del
ENST00000554897.5:c.252+120del	ENSP00000450942.1:n.252+120del
ENST00000554944.5:n.282+120del
ENST00000555020.5:n.283-114del
ENST00000555086.5:n.257-114del
ENST00000555214.5:n.261+120del
ENST00000556157.1:n.360-97del
ENST00000556244.1:c.137-11del
ENST00000556278.1:c.252+120del	ENSP00000451792.1:n.252+120del
ENST00000556403.5:n.266-114del
ENST00000556494.5:n.285-114del
ENST00000557541.5:n.445+120del
ENST00000557706.5:n.486del
NM_000155.3:c.253-114del	NP_000146.2:n.253-114del
NM_001258332.1:c.50+120del	NP_001245261.1:n.50+120del
NM_000155.4:c.253-114del MANE Select	NP_000146.2:n.253-114del
NM_001258332.2:c.50+120del	NP_001245261.1:n.50+120del