Canonical Allele Identifier: CA2689808445

Gene: GALT

Linked Data

• gnomAD v4: 9-34646859-CCTCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646860_34646864del , CM000671.2:g.34646860_34646864del	GRCh38
NC_000009.11:g.34646857_34646861del , CM000671.1:g.34646857_34646861del	GRCh37
NC_000009.10:g.34636857_34636861del	NCBI36
NG_009029.1:g.5223_5227del
NG_009029.2:g.5272_5276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.82+74_82+78del	ENSP00000509954.1:n.82+74_82+78del
ENST00000378842.8:c.82+74_82+78del MANE Select	ENSP00000368119.4:n.82+74_82+78del
ENST00000378842.7:c.82+74_82+78del	ENSP00000368119.3:n.82+74_82+78del
ENST00000450095.6:c.-121+74_-121+78del	ENSP00000401956.2:n.-121+74_-121+78del
ENST00000465543.6:n.193_197del
ENST00000468099.2:n.154+74_154+78del
ENST00000472111.5:n.123+74_123+78del
ENST00000473506.6:c.82+74_82+78del	ENSP00000432839.2:n.82+74_82+78del
ENST00000473529.5:n.129+74_129+78del
ENST00000485531.1:n.16_20del
ENST00000487381.5:n.108+74_108+78del
ENST00000489643.6:n.112+74_112+78del
ENST00000554085.5:c.82+74_82+78del	ENSP00000450419.1:n.82+74_82+78del
ENST00000554139.5:n.135+74_135+78del
ENST00000554330.5:n.72_76del
ENST00000554550.5:c.82+74_82+78del	ENSP00000451435.1:n.82+74_82+78del
ENST00000554638.5:n.106+74_106+78del
ENST00000554897.5:c.82+74_82+78del	ENSP00000450942.1:n.82+74_82+78del
ENST00000554944.5:n.112+74_112+78del
ENST00000555020.5:n.112+74_112+78del
ENST00000555086.5:n.79_83del
ENST00000555214.5:n.91+74_91+78del
ENST00000556278.1:c.82+74_82+78del	ENSP00000451792.1:n.82+74_82+78del
ENST00000556403.5:n.88_92del
ENST00000556494.5:n.55_59del
ENST00000557541.5:n.216_220del
ENST00000605275.1:n.392_396del
NM_000155.3:c.82+74_82+78del	NP_000146.2:n.82+74_82+78del
NM_001258332.1:c.-121+74_-121+78del	NP_001245261.1:n.-121+74_-121+78del
NM_000155.4:c.82+74_82+78del MANE Select	NP_000146.2:n.82+74_82+78del
NM_001258332.2:c.-121+74_-121+78del	NP_001245261.1:n.-121+74_-121+78del