Canonical Allele Identifier: CA2506170584

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976933_87976934insTCTTGGTCATA , CM000676.2:g.87976933_87976934insTCTTGGTCATA	GRCh38
NC_000014.8:g.88443277_88443278insTCTTGGTCATA , CM000676.1:g.88443277_88443278insTCTTGGTCATA	GRCh37
NC_000014.7:g.87513030_87513031insTCTTGGTCATA	NCBI36
NG_011853.2:g.21632_21633insTGACCAAGATA
NG_011853.3:g.21632_21633insTGACCAAGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-444_622-443insTGACCAAGATA MANE Select	ENSP00000261304.2:n.622-444_622-443insTGACCAAGATA
ENST00000261304.6:c.622-444_622-443insTGACCAAGATA	ENSP00000261304.2:n.622-444_622-443insTGACCAAGATA
ENST00000393568.8:c.553-444_553-443insTGACCAAGATA	ENSP00000377198.4:n.553-444_553-443insTGACCAAGATA
ENST00000393569.6:c.544-444_544-443insTGACCAAGATA	ENSP00000377199.2:n.544-444_544-443insTGACCAAGATA
ENST00000474294.6:n.612-444_612-443insTGACCAAGATA
ENST00000544807.6:c.454-444_454-443insTGACCAAGATA	ENSP00000437513.2:n.454-444_454-443insTGACCAAGATA
ENST00000554916.5:n.501-444_501-443insTGACCAAGATA
ENST00000555000.5:c.-12-444_-12-443insTGACCAAGATA	ENSP00000450472.1:n.-12-444_-12-443insTGACCAAGATA
ENST00000557316.5:c.*20-444_*20-443insTGACCAAGATA	ENSP00000452314.1:n.*20-444_*20-443insTGACCAAGATA
ENST00000622264.4:c.612-444_612-443insTGACCAAGATA
NM_000153.3:c.622-444_622-443insTGACCAAGATA	NP_000144.2:n.622-444_622-443insTGACCAAGATA
NM_001201401.1:c.553-444_553-443insTGACCAAGATA	NP_001188330.1:n.553-444_553-443insTGACCAAGATA
NM_001201402.1:c.544-444_544-443insTGACCAAGATA	NP_001188331.1:n.544-444_544-443insTGACCAAGATA
XM_011536618.1:c.454-444_454-443insTGACCAAGATA	XP_011534920.1:n.454-444_454-443insTGACCAAGATA
XM_011536618.2:c.454-444_454-443insTGACCAAGATA	XP_011534920.1:n.454-444_454-443insTGACCAAGATA
NM_000153.4:c.622-444_622-443insTGACCAAGATA MANE Select	NP_000144.2:n.622-444_622-443insTGACCAAGATA
NM_001201401.2:c.553-444_553-443insTGACCAAGATA	NP_001188330.1:n.553-444_553-443insTGACCAAGATA
NM_001201402.2:c.544-444_544-443insTGACCAAGATA	NP_001188331.1:n.544-444_544-443insTGACCAAGATA