Canonical Allele Identifier: CA2689808577

Gene: GALT

Linked Data

• gnomAD v4: 9-34647333-CAGGGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647336_34647341del , CM000671.2:g.34647336_34647341del	GRCh38
NC_000009.11:g.34647333_34647338del , CM000671.1:g.34647333_34647338del	GRCh37
NC_000009.10:g.34637333_34637338del	NCBI36
NG_009029.1:g.5699_5704del
NG_028966.1:g.152_157del
NG_009029.2:g.5748_5753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.252+78_252+83del	ENSP00000509954.1:n.252+78_252+83del
ENST00000378842.8:c.252+78_252+83del MANE Select	ENSP00000368119.4:n.252+78_252+83del
ENST00000378842.7:c.252+78_252+83del	ENSP00000368119.3:n.252+78_252+83del
ENST00000450095.6:c.50+78_50+83del	ENSP00000401956.2:n.50+78_50+83del
ENST00000465543.6:n.591+78_591+83del
ENST00000468099.2:n.370_375del
ENST00000472111.5:n.293+78_293+83del
ENST00000473506.6:c.252+78_252+83del	ENSP00000432839.2:n.252+78_252+83del
ENST00000473529.5:n.299+78_299+83del
ENST00000485531.1:n.323_328del
ENST00000487381.5:n.356_361del
ENST00000489643.6:n.282+78_282+83del
ENST00000554085.5:c.252+78_252+83del	ENSP00000450419.1:n.252+78_252+83del
ENST00000554139.5:n.305+78_305+83del
ENST00000554330.5:n.249+78_249+83del
ENST00000554550.5:c.252+78_252+83del	ENSP00000451435.1:n.252+78_252+83del
ENST00000554638.5:n.354_359del
ENST00000554897.5:c.252+78_252+83del	ENSP00000450942.1:n.252+78_252+83del
ENST00000554944.5:n.282+78_282+83del
ENST00000555020.5:n.282+78_282+83del
ENST00000555086.5:n.256+78_256+83del
ENST00000555214.5:n.261+78_261+83del
ENST00000556157.1:n.359+78_359+83del
ENST00000556244.1:c.137-53_137-48del
ENST00000556278.1:c.252+78_252+83del	ENSP00000451792.1:n.252+78_252+83del
ENST00000556403.5:n.265+78_265+83del
ENST00000556494.5:n.284+78_284+83del
ENST00000557541.5:n.445+78_445+83del
ENST00000557706.5:n.444_449del
NM_000155.3:c.252+78_252+83del	NP_000146.2:n.252+78_252+83del
NM_001258332.1:c.50+78_50+83del	NP_001245261.1:n.50+78_50+83del
NM_000155.4:c.252+78_252+83del MANE Select	NP_000146.2:n.252+78_252+83del
NM_001258332.2:c.50+78_50+83del	NP_001245261.1:n.50+78_50+83del