Canonical Allele Identifier: CA2580080403

Gene: GALT

Linked Data

• ClinVar Variation Id: 1726510
• ClinVar RCV Id: RCV002310194

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648449_34648450del , CM000671.2:g.34648449_34648450del	GRCh38
NC_000009.11:g.34648446_34648447del , CM000671.1:g.34648446_34648447del	GRCh37
NC_000009.10:g.34638446_34638447del	NCBI36
NG_009029.1:g.6812_6813del
NG_028966.1:g.1265_1266del
NG_009029.2:g.6861_6862del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*268_*269del	ENSP00000509954.1:n.*268_*269del
ENST00000378842.8:c.680_681del MANE Select	ENSP00000368119.4:p.Leu227GlnfsTer10
ENST00000378842.7:c.680_681del	ENSP00000368119.3:p.Leu227GlnfsTer10
ENST00000450095.6:c.353_354del	ENSP00000401956.2:p.Leu118GlnfsTer10
ENST00000472111.5:n.936_937del
ENST00000473506.6:c.*268_*269del	ENSP00000432839.2:n.*268_*269del
ENST00000473529.5:n.839_840del
ENST00000487381.5:n.1065_1066del
ENST00000489643.6:n.455_456del
ENST00000554085.5:c.*424_*425del	ENSP00000450419.1:n.*424_*425del
ENST00000554550.5:c.*300_*301del	ENSP00000451435.1:n.*300_*301del
ENST00000554638.5:n.1152_1153del
ENST00000555020.5:n.836_837del
ENST00000555086.5:n.684_685del
ENST00000555214.5:n.501_502del
ENST00000555754.1:n.25_26del
ENST00000556244.1:c.667_668del
ENST00000556278.1:c.425_426del	ENSP00000451792.1:p.Leu142GlnfsTer?
ENST00000556494.5:n.801_802del
ENST00000557706.5:n.1242_1243del
NM_000155.3:c.680_681del	NP_000146.2:p.Leu227GlnfsTer10
NM_001258332.1:c.353_354del	NP_001245261.1:p.Leu118GlnfsTer10
NM_000155.4:c.680_681del MANE Select	NP_000146.2:p.Leu227GlnfsTer10
NM_001258332.2:c.353_354del	NP_001245261.1:p.Leu118GlnfsTer10