Canonical Allele Identifier: CA2689808620

Gene: GALT

Linked Data

• gnomAD v4: 9-34647533-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647535del , CM000671.2:g.34647535del	GRCh38
NC_000009.11:g.34647532del , CM000671.1:g.34647532del	GRCh37
NC_000009.10:g.34637532del	NCBI36
NG_009029.1:g.5898del
NG_028966.1:g.351del
NG_009029.2:g.5947del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.296del	ENSP00000509954.1:p.Phe99SerfsTer12
ENST00000378842.8:c.296del MANE Select	ENSP00000368119.4:p.Phe99SerfsTer?
ENST00000378842.7:c.296del	ENSP00000368119.3:p.Phe99SerfsTer?
ENST00000450095.6:c.50+277del	ENSP00000401956.2:n.50+277del
ENST00000465543.6:n.635del
ENST00000472111.5:n.337del
ENST00000473506.6:c.253-6del	ENSP00000432839.2:n.253-6del
ENST00000473529.5:n.343del
ENST00000485531.1:n.522del
ENST00000487381.5:n.555del
ENST00000489643.6:n.282+277del
ENST00000554085.5:c.*40del	ENSP00000450419.1:n.*40del
ENST00000554139.5:n.349del
ENST00000554330.5:n.250-6del
ENST00000554550.5:c.252+277del	ENSP00000451435.1:n.252+277del
ENST00000554638.5:n.553del
ENST00000554897.5:c.252+277del	ENSP00000450942.1:n.252+277del
ENST00000554944.5:n.283-6del
ENST00000555020.5:n.326del
ENST00000555086.5:n.300del
ENST00000555214.5:n.261+277del
ENST00000556157.1:n.420del
ENST00000556244.1:c.283del
ENST00000556278.1:c.252+277del	ENSP00000451792.1:n.252+277del
ENST00000556403.5:n.309del
ENST00000556494.5:n.328del
ENST00000557541.5:n.446-6del
ENST00000557706.5:n.643del
NM_000155.3:c.296del	NP_000146.2:p.Phe99SerfsTer?
NM_001258332.1:c.50+277del	NP_001245261.1:n.50+277del
NM_000155.4:c.296del MANE Select	NP_000146.2:p.Phe99SerfsTer?
NM_001258332.2:c.50+277del	NP_001245261.1:n.50+277del