Canonical Allele Identifier: CA2580080375

Gene: GALT

Linked Data

• ClinVar Variation Id: 1724396
• ClinVar RCV Id: RCV002309664

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647237_34647239delinsT , CM000671.2:g.34647237_34647239delinsT	GRCh38
NC_000009.11:g.34647234_34647236delinsT , CM000671.1:g.34647234_34647236delinsT	GRCh37
NC_000009.10:g.34637234_34637236delinsT	NCBI36
NG_009029.1:g.5600_5602delinsT
NG_028966.1:g.53_55delinsT
NG_009029.2:g.5649_5651delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.231_233delinsT	ENSP00000509954.1:p.Ala78HisfsTer13
ENST00000378842.8:c.231_233delinsT MANE Select	ENSP00000368119.4:p.Ala78HisfsTer13
ENST00000378842.7:c.231_233delinsT	ENSP00000368119.3:p.Ala78HisfsTer13
ENST00000450095.6:c.29_31delinsT	ENSP00000401956.2:p.Gly10ValfsTer8
ENST00000465543.6:n.570_572delinsT
ENST00000468099.2:n.271_273delinsT
ENST00000472111.5:n.272_274delinsT
ENST00000473506.6:c.231_233delinsT	ENSP00000432839.2:p.Ala78HisfsTer?
ENST00000473529.5:n.278_280delinsT
ENST00000485531.1:n.224_226delinsT
ENST00000487381.5:n.257_259delinsT
ENST00000489643.6:n.261_263delinsT
ENST00000554085.5:c.231_233delinsT	ENSP00000450419.1:p.Ala78HisfsTer12
ENST00000554139.5:n.284_286delinsT
ENST00000554330.5:n.228_230delinsT
ENST00000554550.5:c.231_233delinsT	ENSP00000451435.1:p.Ala78HisfsTer18
ENST00000554638.5:n.255_257delinsT
ENST00000554897.5:c.231_233delinsT	ENSP00000450942.1:p.Ala78HisfsTer18
ENST00000554944.5:n.261_263delinsT
ENST00000555020.5:n.261_263delinsT
ENST00000555086.5:n.235_237delinsT
ENST00000555214.5:n.240_242delinsT
ENST00000556157.1:n.338_340delinsT
ENST00000556244.1:c.115_117delinsT
ENST00000556278.1:c.231_233delinsT	ENSP00000451792.1:p.Ala78HisfsTer9
ENST00000556403.5:n.244_246delinsT
ENST00000556494.5:n.263_265delinsT
ENST00000557541.5:n.424_426delinsT
ENST00000557706.5:n.345_347delinsT
NM_000155.3:c.231_233delinsT	NP_000146.2:p.Ala78HisfsTer13
NM_001258332.1:c.29_31delinsT	NP_001245261.1:p.Gly10ValfsTer8
NM_000155.4:c.231_233delinsT MANE Select	NP_000146.2:p.Ala78HisfsTer13
NM_001258332.2:c.29_31delinsT	NP_001245261.1:p.Gly10ValfsTer8