Canonical Allele Identifier: CA2689811288

Gene: GALT

Linked Data

• gnomAD v4: 9-34649504-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649507del , CM000671.2:g.34649507del	GRCh38
NC_000009.11:g.34649504del , CM000671.1:g.34649504del	GRCh37
NC_000009.10:g.34639504del	NCBI36
NG_009029.1:g.7870del
NG_028966.1:g.2323del
NG_009029.2:g.7919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*590del	ENSP00000509954.1:n.*590del
ENST00000378842.8:c.1002del MANE Select	ENSP00000368119.4:p.Lys334AsnfsTer25
ENST00000378842.7:c.1002del	ENSP00000368119.3:p.Lys334AsnfsTer25
ENST00000450095.6:c.675del	ENSP00000401956.2:p.Lys225AsnfsTer25
ENST00000488412.2:n.586del
ENST00000489643.6:n.1410del
ENST00000554550.5:c.*622del	ENSP00000451435.1:n.*622del
ENST00000554638.5:n.1474del
ENST00000555020.5:n.1791del
ENST00000555754.1:n.450del
ENST00000556278.1:c.432+1051del	ENSP00000451792.1:n.432+1051del
ENST00000557706.5:n.1577del
NM_000155.3:c.1002del	NP_000146.2:p.Lys334AsnfsTer25
NM_001258332.1:c.675del	NP_001245261.1:p.Lys225AsnfsTer25
NM_000155.4:c.1002del MANE Select	NP_000146.2:p.Lys334AsnfsTer25
NM_001258332.2:c.675del	NP_001245261.1:p.Lys225AsnfsTer25