Canonical Allele Identifier: CA915757722

Gene: GALT

Linked Data

• gnomAD v2: 9-34648132-CAT-C
• gnomAD v3: 9-34648135-CAT-C
• gnomAD v4: 9-34648135-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648136_34648137del , CM000671.2:g.34648136_34648137del	GRCh38
NC_000009.11:g.34648133_34648134del , CM000671.1:g.34648133_34648134del	GRCh37
NC_000009.10:g.34638133_34638134del	NCBI36
NG_009029.1:g.6499_6500del
NG_028966.1:g.952_953del
NG_009029.2:g.6548_6549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*117_*118del	ENSP00000509954.1:n.*117_*118del
ENST00000378842.8:c.529_530del MANE Select	ENSP00000368119.4:p.Met177AspfsTer5
ENST00000378842.7:c.529_530del	ENSP00000368119.3:p.Met177AspfsTer5
ENST00000450095.6:c.202_203del	ENSP00000401956.2:p.Met68AspfsTer5
ENST00000465543.6:n.868_869del
ENST00000472111.5:n.785_786del
ENST00000473506.6:c.*117_*118del	ENSP00000432839.2:n.*117_*118del
ENST00000473529.5:n.688_689del
ENST00000485531.1:n.1123_1124del
ENST00000487381.5:n.914_915del
ENST00000489643.6:n.304_305del
ENST00000554085.5:c.*273_*274del	ENSP00000450419.1:n.*273_*274del
ENST00000554139.5:n.775_776del
ENST00000554550.5:c.*149_*150del	ENSP00000451435.1:n.*149_*150del
ENST00000554638.5:n.1001_1002del
ENST00000554897.5:c.*216_*217del	ENSP00000450942.1:n.*216_*217del
ENST00000554944.5:n.878_879del
ENST00000555020.5:n.685_686del
ENST00000555086.5:n.533_534del
ENST00000555214.5:n.350_351del
ENST00000556244.1:c.516_517del
ENST00000556278.1:c.274_275del	ENSP00000451792.1:p.Met92AspfsTer5
ENST00000556494.5:n.650_651del
ENST00000557706.5:n.1091_1092del
NM_000155.3:c.529_530del	NP_000146.2:p.Met177AspfsTer5
NM_001258332.1:c.202_203del	NP_001245261.1:p.Met68AspfsTer5
NM_000155.4:c.529_530del MANE Select	NP_000146.2:p.Met177AspfsTer5
NM_001258332.2:c.202_203del	NP_001245261.1:p.Met68AspfsTer5