Canonical Allele Identifier: CA587568196
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1455908776

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647614_34647615del , CM000671.2:g.34647614_34647615del GRCh38
NC_000009.11:g.34647611_34647612del , CM000671.1:g.34647611_34647612del GRCh37
NC_000009.10:g.34637611_34637612del NCBI36
NG_009029.1:g.5977_5978del
NG_028966.1:g.430_431del
NG_009029.2:g.6026_6027del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+47_328+48del ENSP00000509954.1:n.328+47_328+48del
ENST00000378842.8:c.329-43_329-42del MANE Select ENSP00000368119.4:n.329-43_329-42del
ENST00000378842.7:c.329-43_329-42del ENSP00000368119.3:n.329-43_329-42del
ENST00000450095.6:c.51-218_51-217del ENSP00000401956.2:n.51-218_51-217del
ENST00000465543.6:n.668-43_668-42del
ENST00000472111.5:n.416_417del
ENST00000473506.6:c.280-43_280-42del ENSP00000432839.2:n.280-43_280-42del
ENST00000473529.5:n.422_423del
ENST00000485531.1:n.601_602del
ENST00000487381.5:n.588-43_588-42del
ENST00000489643.6:n.282+356_282+357del
ENST00000554085.5:c.*73-43_*73-42del ENSP00000450419.1:n.*73-43_*73-42del
ENST00000554139.5:n.382-43_382-42del
ENST00000554330.5:n.323_324del
ENST00000554550.5:c.253-218_253-217del ENSP00000451435.1:n.253-218_253-217del
ENST00000554638.5:n.632_633del
ENST00000554897.5:c.253-218_253-217del ENSP00000450942.1:n.253-218_253-217del
ENST00000554944.5:n.356_357del
ENST00000555020.5:n.359-43_359-42del
ENST00000555086.5:n.333-43_333-42del
ENST00000555214.5:n.261+356_261+357del
ENST00000556157.1:n.453-43_453-42del
ENST00000556244.1:c.316-43_316-42del
ENST00000556278.1:c.252+356_252+357del ENSP00000451792.1:n.252+356_252+357del
ENST00000556403.5:n.388_389del
ENST00000556494.5:n.407_408del
ENST00000557541.5:n.473-43_473-42del
ENST00000557706.5:n.722_723del
NM_000155.3:c.329-43_329-42del NP_000146.2:n.329-43_329-42del
NM_001258332.1:c.51-218_51-217del NP_001245261.1:n.51-218_51-217del
NM_000155.4:c.329-43_329-42del MANE Select NP_000146.2:n.329-43_329-42del
NM_001258332.2:c.51-218_51-217del NP_001245261.1:n.51-218_51-217del