Canonical Allele Identifier: CA2689809672

Gene: GALT

Linked Data

• gnomAD v4: 9-34648898-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648899del , CM000671.2:g.34648899del	GRCh38
NC_000009.11:g.34648896del , CM000671.1:g.34648896del	GRCh37
NC_000009.10:g.34638896del	NCBI36
NG_009029.1:g.7262del
NG_028966.1:g.1715del
NG_009029.2:g.7311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+5del	ENSP00000509954.1:n.*408+5del
ENST00000378842.8:c.820+5del MANE Select	ENSP00000368119.4:n.820+5del
ENST00000378842.7:c.820+5del	ENSP00000368119.3:n.820+5del
ENST00000450095.6:c.493+5del	ENSP00000401956.2:n.493+5del
ENST00000489643.6:n.900+5del
ENST00000554085.5:c.*564+5del	ENSP00000450419.1:n.*564+5del
ENST00000554550.5:c.*440+5del	ENSP00000451435.1:n.*440+5del
ENST00000554638.5:n.1292+5del
ENST00000555020.5:n.1281+5del
ENST00000555086.5:n.829del
ENST00000555754.1:n.170del
ENST00000556278.1:c.432+443del	ENSP00000451792.1:n.432+443del
ENST00000557706.5:n.1387del
NM_000155.3:c.820+5del	NP_000146.2:n.820+5del
NM_001258332.1:c.493+5del	NP_001245261.1:n.493+5del
NM_000155.4:c.820+5del MANE Select	NP_000146.2:n.820+5del
NM_001258332.2:c.493+5del	NP_001245261.1:n.493+5del