Canonical Allele Identifier: CA2153356336

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945422_87945423delinsTA , CM000676.2:g.87945422_87945423delinsTA	GRCh38
NC_000014.8:g.88411766_88411767delinsTA , CM000676.1:g.88411766_88411767delinsTA	GRCh37
NC_000014.7:g.87481519_87481520delinsTA	NCBI36
NG_011853.2:g.53141_53142delinsTA
NG_011853.3:g.53141_53142delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1670+130_1670+131delinsTA MANE Select	ENSP00000261304.2:n.1670+130_1670+131delinsTA
ENST00000261304.6:c.1670+130_1670+131delinsTA	ENSP00000261304.2:n.1670+130_1670+131delinsTA
ENST00000393568.8:c.1601+130_1601+131delinsTA	ENSP00000377198.4:n.1601+130_1601+131delinsTA
ENST00000393569.6:c.1592+130_1592+131delinsTA	ENSP00000377199.2:n.1592+130_1592+131delinsTA
ENST00000544807.6:c.1502+130_1502+131delinsTA	ENSP00000437513.2:n.1502+130_1502+131delinsTA
ENST00000555000.5:c.1037+130_1037+131delinsTA	ENSP00000450472.1:n.1037+130_1037+131delinsTA
ENST00000555179.1:c.206+2305_206+2306delinsTA
ENST00000557316.5:c.*1068+130_*1068+131delinsTA	ENSP00000452314.1:n.*1068+130_*1068+131delinsTA
NM_000153.3:c.1670+130_1670+131delinsTA	NP_000144.2:n.1670+130_1670+131delinsTA
NM_001201401.1:c.1601+130_1601+131delinsTA	NP_001188330.1:n.1601+130_1601+131delinsTA
NM_001201402.1:c.1592+130_1592+131delinsTA	NP_001188331.1:n.1592+130_1592+131delinsTA
XM_011536618.1:c.1502+130_1502+131delinsTA	XP_011534920.1:n.1502+130_1502+131delinsTA
XM_011536618.2:c.1502+130_1502+131delinsTA	XP_011534920.1:n.1502+130_1502+131delinsTA
NM_000153.4:c.1670+130_1670+131delinsTA MANE Select	NP_000144.2:n.1670+130_1670+131delinsTA
NM_001201401.2:c.1601+130_1601+131delinsTA	NP_001188330.1:n.1601+130_1601+131delinsTA
NM_001201402.2:c.1592+130_1592+131delinsTA	NP_001188331.1:n.1592+130_1592+131delinsTA