Canonical Allele Identifier: CA2153385714

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984595_87984596delinsAT , CM000676.2:g.87984595_87984596delinsAT	GRCh38
NC_000014.8:g.88450939_88450940delinsAT , CM000676.1:g.88450939_88450940delinsAT	GRCh37
NC_000014.7:g.87520692_87520693delinsAT	NCBI36
NG_011853.2:g.13968_13969delinsAT
NG_011853.3:g.13968_13969delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.443-63_443-62delinsAT MANE Select	ENSP00000261304.2:n.443-63_443-62delinsAT
ENST00000261304.6:c.443-63_443-62delinsAT	ENSP00000261304.2:n.443-63_443-62delinsAT
ENST00000393568.8:c.374-63_374-62delinsAT	ENSP00000377198.4:n.374-63_374-62delinsAT
ENST00000393569.6:c.365-63_365-62delinsAT	ENSP00000377199.2:n.365-63_365-62delinsAT
ENST00000474294.6:n.433-63_433-62delinsAT
ENST00000544807.6:c.275-63_275-62delinsAT	ENSP00000437513.2:n.275-63_275-62delinsAT
ENST00000554372.5:c.*192-63_*192-62delinsAT	ENSP00000451884.1:n.*192-63_*192-62delinsAT
ENST00000554916.5:n.322-63_322-62delinsAT
ENST00000556261.5:n.144-63_144-62delinsAT
ENST00000556879.5:c.503-63_503-62delinsAT	ENSP00000452208.1:n.503-63_503-62delinsAT
ENST00000557316.5:c.443-63_443-62delinsAT	ENSP00000452314.1:n.443-63_443-62delinsAT
ENST00000622264.4:c.433-63_433-62delinsAT
NM_000153.3:c.443-63_443-62delinsAT	NP_000144.2:n.443-63_443-62delinsAT
NM_001201401.1:c.374-63_374-62delinsAT	NP_001188330.1:n.374-63_374-62delinsAT
NM_001201402.1:c.365-63_365-62delinsAT	NP_001188331.1:n.365-63_365-62delinsAT
XM_011536618.1:c.275-63_275-62delinsAT	XP_011534920.1:n.275-63_275-62delinsAT
XM_011536618.2:c.275-63_275-62delinsAT	XP_011534920.1:n.275-63_275-62delinsAT
NM_000153.4:c.443-63_443-62delinsAT MANE Select	NP_000144.2:n.443-63_443-62delinsAT
NM_001201401.2:c.374-63_374-62delinsAT	NP_001188330.1:n.374-63_374-62delinsAT
NM_001201402.2:c.365-63_365-62delinsAT	NP_001188331.1:n.365-63_365-62delinsAT