Canonical Allele Identifier: CA965688468

Gene: GALC

Linked Data

• gnomAD v3: 14-87976945-ATGT-A
• gnomAD v4: 14-87976945-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976946_87976948del , CM000676.2:g.87976946_87976948del	GRCh38
NC_000014.8:g.88443290_88443292del , CM000676.1:g.88443290_88443292del	GRCh37
NC_000014.7:g.87513043_87513045del	NCBI36
NG_011853.2:g.21616_21618del
NG_011853.3:g.21616_21618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-460_622-458del MANE Select	ENSP00000261304.2:n.622-460_622-458del
ENST00000261304.6:c.622-460_622-458del	ENSP00000261304.2:n.622-460_622-458del
ENST00000393568.8:c.553-460_553-458del	ENSP00000377198.4:n.553-460_553-458del
ENST00000393569.6:c.544-460_544-458del	ENSP00000377199.2:n.544-460_544-458del
ENST00000474294.6:n.612-460_612-458del
ENST00000544807.6:c.454-460_454-458del	ENSP00000437513.2:n.454-460_454-458del
ENST00000554916.5:n.501-460_501-458del
ENST00000555000.5:c.-12-460_-12-458del	ENSP00000450472.1:n.-12-460_-12-458del
ENST00000557316.5:c.*20-460_*20-458del	ENSP00000452314.1:n.*20-460_*20-458del
ENST00000622264.4:c.612-460_612-458del
NM_000153.3:c.622-460_622-458del	NP_000144.2:n.622-460_622-458del
NM_001201401.1:c.553-460_553-458del	NP_001188330.1:n.553-460_553-458del
NM_001201402.1:c.544-460_544-458del	NP_001188331.1:n.544-460_544-458del
XM_011536618.1:c.454-460_454-458del	XP_011534920.1:n.454-460_454-458del
XM_011536618.2:c.454-460_454-458del	XP_011534920.1:n.454-460_454-458del
NM_000153.4:c.622-460_622-458del MANE Select	NP_000144.2:n.622-460_622-458del
NM_001201401.2:c.553-460_553-458del	NP_001188330.1:n.553-460_553-458del
NM_001201402.2:c.544-460_544-458del	NP_001188331.1:n.544-460_544-458del