Canonical Allele Identifier: CA2625960523

Gene: GALC

Linked Data

• gnomAD v4: 14-87976738-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976738_87976739insTTTTT , CM000676.2:g.87976738_87976739insTTTTT	GRCh38
NC_000014.8:g.88443082_88443083insTTTTT , CM000676.1:g.88443082_88443083insTTTTT	GRCh37
NC_000014.7:g.87512835_87512836insTTTTT	NCBI36
NG_011853.2:g.21825_21826insAAAAA
NG_011853.3:g.21825_21826insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-251_622-250insAAAAA MANE Select	ENSP00000261304.2:n.622-251_622-250insAAAAA
ENST00000261304.6:c.622-251_622-250insAAAAA	ENSP00000261304.2:n.622-251_622-250insAAAAA
ENST00000393568.8:c.553-251_553-250insAAAAA	ENSP00000377198.4:n.553-251_553-250insAAAAA
ENST00000393569.6:c.544-251_544-250insAAAAA	ENSP00000377199.2:n.544-251_544-250insAAAAA
ENST00000474294.6:n.612-251_612-250insAAAAA
ENST00000477716.3:n.126_127insAAAAA
ENST00000544807.6:c.454-251_454-250insAAAAA	ENSP00000437513.2:n.454-251_454-250insAAAAA
ENST00000554916.5:n.501-251_501-250insAAAAA
ENST00000555000.5:c.-12-251_-12-250insAAAAA	ENSP00000450472.1:n.-12-251_-12-250insAAAAA
ENST00000557316.5:c.*20-251_*20-250insAAAAA	ENSP00000452314.1:n.*20-251_*20-250insAAAAA
ENST00000622264.4:c.612-251_612-250insAAAAA
NM_000153.3:c.622-251_622-250insAAAAA	NP_000144.2:n.622-251_622-250insAAAAA
NM_001201401.1:c.553-251_553-250insAAAAA	NP_001188330.1:n.553-251_553-250insAAAAA
NM_001201402.1:c.544-251_544-250insAAAAA	NP_001188331.1:n.544-251_544-250insAAAAA
XM_011536618.1:c.454-251_454-250insAAAAA	XP_011534920.1:n.454-251_454-250insAAAAA
XM_011536618.2:c.454-251_454-250insAAAAA	XP_011534920.1:n.454-251_454-250insAAAAA
NM_000153.4:c.622-251_622-250insAAAAA MANE Select	NP_000144.2:n.622-251_622-250insAAAAA
NM_001201401.2:c.553-251_553-250insAAAAA	NP_001188330.1:n.553-251_553-250insAAAAA
NM_001201402.2:c.544-251_544-250insAAAAA	NP_001188331.1:n.544-251_544-250insAAAAA