Canonical Allele Identifier: CA658822594

Gene: GALT

Linked Data

• ClinVar Variation Id: 558553
• ClinVar RCV Id: RCV000674843
• dbSNP Id: rs1554709502
• MyVariant Identifiers: chr9:g.34649484_34649491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649484_34649491del , CM000671.2:g.34649484_34649491del	GRCh38
NC_000009.11:g.34649481_34649488del , CM000671.1:g.34649481_34649488del	GRCh37
NC_000009.10:g.34639481_34639488del	NCBI36
NG_009029.1:g.7847_7854del
NG_028966.1:g.2300_2307del
NG_009029.2:g.7896_7903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*567_*574del	ENSP00000509954.1:n.*567_*574del
ENST00000378842.8:c.979_986del MANE Select	ENSP00000368119.4:p.Leu327CysfsTer23
ENST00000378842.7:c.979_986del	ENSP00000368119.3:p.Leu327CysfsTer23
ENST00000450095.6:c.652_659del	ENSP00000401956.2:p.Leu218CysfsTer23
ENST00000488412.2:n.563_570del
ENST00000489643.6:n.1387_1394del
ENST00000554550.5:c.*599_*606del	ENSP00000451435.1:n.*599_*606del
ENST00000554638.5:n.1451_1458del
ENST00000555020.5:n.1768_1775del
ENST00000555754.1:n.427_434del
ENST00000556278.1:c.432+1028_432+1035del	ENSP00000451792.1:n.432+1028_432+1035del
ENST00000557706.5:n.1554_1561del
NM_000155.3:c.979_986del	NP_000146.2:p.Leu327CysfsTer23
NM_001258332.1:c.652_659del	NP_001245261.1:p.Leu218CysfsTer23
NM_000155.4:c.979_986del MANE Select	NP_000146.2:p.Leu327CysfsTer23
NM_001258332.2:c.652_659del	NP_001245261.1:p.Leu218CysfsTer23