Canonical Allele Identifier: CA2802493094

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988341_87988342insCC , CM000676.2:g.87988341_87988342insCC	GRCh38
NC_000014.8:g.88454685_88454686insCC , CM000676.1:g.88454685_88454686insCC	GRCh37
NC_000014.7:g.87524438_87524439insCC	NCBI36
NG_011853.2:g.10222_10223insGG
NG_011853.3:g.10222_10223insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.264+113_264+114insGG MANE Select	ENSP00000261304.2:n.264+113_264+114insGG
ENST00000261304.6:c.264+113_264+114insGG	ENSP00000261304.2:n.264+113_264+114insGG
ENST00000393568.8:c.196-135_196-134insGG	ENSP00000377198.4:n.196-135_196-134insGG
ENST00000393569.6:c.186+113_186+114insGG	ENSP00000377199.2:n.186+113_186+114insGG
ENST00000474294.6:n.254+113_254+114insGG
ENST00000544807.6:c.96+113_96+114insGG	ENSP00000437513.2:n.96+113_96+114insGG
ENST00000554372.5:c.264+113_264+114insGG	ENSP00000451884.1:n.264+113_264+114insGG
ENST00000554916.5:n.143+113_143+114insGG
ENST00000555956.1:n.69+113_69+114insGG
ENST00000556879.5:c.324+113_324+114insGG	ENSP00000452208.1:n.324+113_324+114insGG
ENST00000557316.5:c.264+113_264+114insGG	ENSP00000452314.1:n.264+113_264+114insGG
ENST00000622264.4:c.254+113_254+114insGG
NM_000153.3:c.264+113_264+114insGG	NP_000144.2:n.264+113_264+114insGG
NM_001201401.1:c.196-135_196-134insGG	NP_001188330.1:n.196-135_196-134insGG
NM_001201402.1:c.186+113_186+114insGG	NP_001188331.1:n.186+113_186+114insGG
XM_011536618.1:c.96+113_96+114insGG	XP_011534920.1:n.96+113_96+114insGG
XM_011536618.2:c.96+113_96+114insGG	XP_011534920.1:n.96+113_96+114insGG
NM_000153.4:c.264+113_264+114insGG MANE Select	NP_000144.2:n.264+113_264+114insGG
NM_001201401.2:c.196-135_196-134insGG	NP_001188330.1:n.196-135_196-134insGG
NM_001201402.2:c.186+113_186+114insGG	NP_001188331.1:n.186+113_186+114insGG