Canonical Allele Identifier: CA2689810542

Gene: GALT

Linked Data

• gnomAD v4: 9-34649227-TGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649229_34649231del , CM000671.2:g.34649229_34649231del	GRCh38
NC_000009.11:g.34649226_34649228del , CM000671.1:g.34649226_34649228del	GRCh37
NC_000009.10:g.34639226_34639228del	NCBI36
NG_009029.1:g.7592_7594del
NG_028966.1:g.2045_2047del
NG_009029.2:g.7641_7643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*492+148_*492+150del	ENSP00000509954.1:n.*492+148_*492+150del
ENST00000378842.8:c.904+148_904+150del MANE Select	ENSP00000368119.4:n.904+148_904+150del
ENST00000378842.7:c.904+148_904+150del	ENSP00000368119.3:n.904+148_904+150del
ENST00000450095.6:c.577+148_577+150del	ENSP00000401956.2:n.577+148_577+150del
ENST00000488412.2:n.308_310del
ENST00000489643.6:n.1132_1134del
ENST00000554550.5:c.*524+148_*524+150del	ENSP00000451435.1:n.*524+148_*524+150del
ENST00000554638.5:n.1376+148_1376+150del
ENST00000555020.5:n.1513_1515del
ENST00000555754.1:n.352+148_352+150del
ENST00000556278.1:c.432+773_432+775del	ENSP00000451792.1:n.432+773_432+775del
ENST00000557706.5:n.1479+148_1479+150del
NM_000155.3:c.904+148_904+150del	NP_000146.2:n.904+148_904+150del
NM_001258332.1:c.577+148_577+150del	NP_001245261.1:n.577+148_577+150del
NM_000155.4:c.904+148_904+150del MANE Select	NP_000146.2:n.904+148_904+150del
NM_001258332.2:c.577+148_577+150del	NP_001245261.1:n.577+148_577+150del