Canonical Allele Identifier: CA587568397

Gene: GALT

Linked Data

• ClinVar Variation Id: 1378874
• ClinVar RCV Id: RCV001914711
• dbSNP Id: rs1198705438
• gnomAD v2: 9-34648336-GGCCAGCAGTTTCCT-G
• gnomAD v4: 9-34648339-GGCCAGCAGTTTCCT-G
• MyVariant Identifiers: chr9:g.34648337_34648350del (hg19) ; chr9:g.34648340_34648353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648345_34648358del , CM000671.2:g.34648345_34648358del	GRCh38
NC_000009.11:g.34648342_34648355del , CM000671.1:g.34648342_34648355del	GRCh37
NC_000009.10:g.34638342_34638355del	NCBI36
NG_009029.1:g.6708_6721del
NG_028966.1:g.1161_1174del
NG_009029.2:g.6757_6770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*164_*177del	ENSP00000509954.1:n.*164_*177del
ENST00000378842.8:c.576_589del MANE Select	ENSP00000368119.4:p.Ser192ArgfsTer6
ENST00000378842.7:c.576_589del	ENSP00000368119.3:p.Ser192ArgfsTer6
ENST00000450095.6:c.249_262del	ENSP00000401956.2:p.Ser83ArgfsTer6
ENST00000472111.5:n.832_845del
ENST00000473506.6:c.*164_*177del	ENSP00000432839.2:n.*164_*177del
ENST00000473529.5:n.735_748del
ENST00000485531.1:n.1170_1183del
ENST00000487381.5:n.961_974del
ENST00000489643.6:n.351_364del
ENST00000554085.5:c.*320_*333del	ENSP00000450419.1:n.*320_*333del
ENST00000554139.5:n.822_835del
ENST00000554550.5:c.*196_*209del	ENSP00000451435.1:n.*196_*209del
ENST00000554638.5:n.1048_1061del
ENST00000554897.5:c.*263_*276del	ENSP00000450942.1:n.*263_*276del
ENST00000554944.5:n.925_938del
ENST00000555020.5:n.732_745del
ENST00000555086.5:n.580_593del
ENST00000555214.5:n.397_410del
ENST00000556244.1:c.563_576del
ENST00000556278.1:c.321_334del	ENSP00000451792.1:p.Ser107ArgfsTer6
ENST00000556494.5:n.697_710del
ENST00000557706.5:n.1138_1151del
NM_000155.3:c.576_589del	NP_000146.2:p.Ser192ArgfsTer6
NM_001258332.1:c.249_262del	NP_001245261.1:p.Ser83ArgfsTer6
NM_000155.4:c.576_589del MANE Select	NP_000146.2:p.Ser192ArgfsTer6
NM_001258332.2:c.249_262del	NP_001245261.1:p.Ser83ArgfsTer6