Canonical Allele Identifier: CA1845639703
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648826_34648827delinsAC , CM000671.2:g.34648826_34648827delinsAC GRCh38
NC_000009.11:g.34648823_34648824delinsAC , CM000671.1:g.34648823_34648824delinsAC GRCh37
NC_000009.10:g.34638823_34638824delinsAC NCBI36
NG_009029.1:g.7189_7190delinsAC
NG_028966.1:g.1642_1643delinsAC
NG_009029.2:g.7238_7239delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*340_*341delinsAC ENSP00000509954.1:n.*340_*341delinsAC
ENST00000378842.8:c.752_753delinsAC MANE Select ENSP00000368119.4:p.Tyr251=
ENST00000378842.7:c.752_753delinsAC ENSP00000368119.3:p.Tyr251=
ENST00000450095.6:c.425_426delinsAC ENSP00000401956.2:p.Tyr142=
ENST00000473506.6:c.*340_*341delinsAC ENSP00000432839.2:n.*340_*341delinsAC
ENST00000473529.5:n.911_912delinsAC
ENST00000489643.6:n.832_833delinsAC
ENST00000554085.5:c.*496_*497delinsAC ENSP00000450419.1:n.*496_*497delinsAC
ENST00000554550.5:c.*372_*373delinsAC ENSP00000451435.1:n.*372_*373delinsAC
ENST00000554638.5:n.1224_1225delinsAC
ENST00000555020.5:n.1213_1214delinsAC
ENST00000555086.5:n.756_757delinsAC
ENST00000555754.1:n.97_98delinsAC
ENST00000556244.1:c.739_740delinsAC
ENST00000556278.1:c.432+370_432+371delinsAC ENSP00000451792.1:n.432+370_432+371delinsAC
ENST00000557706.5:n.1314_1315delinsAC
NM_000155.3:c.752_753delinsAC NP_000146.2:p.Tyr251=
NM_001258332.1:c.425_426delinsAC NP_001245261.1:p.Tyr142=
NM_000155.4:c.752_753delinsAC MANE Select NP_000146.2:p.Tyr251=
NM_001258332.2:c.425_426delinsAC NP_001245261.1:p.Tyr142=