Canonical Allele Identifier: CA2802492965
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984600_87984601insACCAAACACACCCAACA , CM000676.2:g.87984600_87984601insACCAAACACACCCAACA GRCh38
NC_000014.8:g.88450944_88450945insACCAAACACACCCAACA , CM000676.1:g.88450944_88450945insACCAAACACACCCAACA GRCh37
NC_000014.7:g.87520697_87520698insACCAAACACACCCAACA NCBI36
NG_011853.2:g.13964_13965insGTTGGGTGTGTTTGGTT
NG_011853.3:g.13964_13965insGTTGGGTGTGTTTGGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.443-67_443-66insGTTGGGTGTGTTTGGTT MANE Select ENSP00000261304.2:n.443-67_443-66insGTTGGGTGTGTTTGGTT
ENST00000261304.6:c.443-67_443-66insGTTGGGTGTGTTTGGTT ENSP00000261304.2:n.443-67_443-66insGTTGGGTGTGTTTGGTT
ENST00000393568.8:c.374-67_374-66insGTTGGGTGTGTTTGGTT ENSP00000377198.4:n.374-67_374-66insGTTGGGTGTGTTTGGTT
ENST00000393569.6:c.365-67_365-66insGTTGGGTGTGTTTGGTT ENSP00000377199.2:n.365-67_365-66insGTTGGGTGTGTTTGGTT
ENST00000474294.6:n.433-67_433-66insGTTGGGTGTGTTTGGTT
ENST00000544807.6:c.275-67_275-66insGTTGGGTGTGTTTGGTT ENSP00000437513.2:n.275-67_275-66insGTTGGGTGTGTTTGGTT
ENST00000554372.5:c.*192-67_*192-66insGTTGGGTGTGTTTGGTT ENSP00000451884.1:n.*192-67_*192-66insGTTGGGTGTGTTTGGTT
ENST00000554916.5:n.322-67_322-66insGTTGGGTGTGTTTGGTT
ENST00000556261.5:n.144-67_144-66insGTTGGGTGTGTTTGGTT
ENST00000556879.5:c.503-67_503-66insGTTGGGTGTGTTTGGTT ENSP00000452208.1:n.503-67_503-66insGTTGGGTGTGTTTGGTT
ENST00000557316.5:c.443-67_443-66insGTTGGGTGTGTTTGGTT ENSP00000452314.1:n.443-67_443-66insGTTGGGTGTGTTTGGTT
ENST00000622264.4:c.433-67_433-66insGTTGGGTGTGTTTGGTT
NM_000153.3:c.443-67_443-66insGTTGGGTGTGTTTGGTT NP_000144.2:n.443-67_443-66insGTTGGGTGTGTTTGGTT
NM_001201401.1:c.374-67_374-66insGTTGGGTGTGTTTGGTT NP_001188330.1:n.374-67_374-66insGTTGGGTGTGTTTGGTT
NM_001201402.1:c.365-67_365-66insGTTGGGTGTGTTTGGTT NP_001188331.1:n.365-67_365-66insGTTGGGTGTGTTTGGTT
XM_011536618.1:c.275-67_275-66insGTTGGGTGTGTTTGGTT XP_011534920.1:n.275-67_275-66insGTTGGGTGTGTTTGGTT
XM_011536618.2:c.275-67_275-66insGTTGGGTGTGTTTGGTT XP_011534920.1:n.275-67_275-66insGTTGGGTGTGTTTGGTT
NM_000153.4:c.443-67_443-66insGTTGGGTGTGTTTGGTT MANE Select NP_000144.2:n.443-67_443-66insGTTGGGTGTGTTTGGTT
NM_001201401.2:c.374-67_374-66insGTTGGGTGTGTTTGGTT NP_001188330.1:n.374-67_374-66insGTTGGGTGTGTTTGGTT
NM_001201402.2:c.365-67_365-66insGTTGGGTGTGTTTGGTT NP_001188331.1:n.365-67_365-66insGTTGGGTGTGTTTGGTT