Canonical Allele Identifier: CA2625960398

Gene: GALC

Linked Data

• gnomAD v4: 14-87976626-TTTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976628_87976632del , CM000676.2:g.87976628_87976632del	GRCh38
NC_000014.8:g.88442972_88442976del , CM000676.1:g.88442972_88442976del	GRCh37
NC_000014.7:g.87512725_87512729del	NCBI36
NG_011853.2:g.21933_21937del
NG_011853.3:g.21933_21937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-143_622-139del MANE Select	ENSP00000261304.2:n.622-143_622-139del
ENST00000261304.6:c.622-143_622-139del	ENSP00000261304.2:n.622-143_622-139del
ENST00000393568.8:c.553-143_553-139del	ENSP00000377198.4:n.553-143_553-139del
ENST00000393569.6:c.544-143_544-139del	ENSP00000377199.2:n.544-143_544-139del
ENST00000474294.6:n.612-143_612-139del
ENST00000477716.3:n.234_238del
ENST00000544807.6:c.454-143_454-139del	ENSP00000437513.2:n.454-143_454-139del
ENST00000554916.5:n.501-143_501-139del
ENST00000555000.5:c.-12-143_-12-139del	ENSP00000450472.1:n.-12-143_-12-139del
ENST00000557316.5:c.*20-143_*20-139del	ENSP00000452314.1:n.*20-143_*20-139del
ENST00000622264.4:c.612-143_612-139del
NM_000153.3:c.622-143_622-139del	NP_000144.2:n.622-143_622-139del
NM_001201401.1:c.553-143_553-139del	NP_001188330.1:n.553-143_553-139del
NM_001201402.1:c.544-143_544-139del	NP_001188331.1:n.544-143_544-139del
XM_011536618.1:c.454-143_454-139del	XP_011534920.1:n.454-143_454-139del
XM_011536618.2:c.454-143_454-139del	XP_011534920.1:n.454-143_454-139del
NM_000153.4:c.622-143_622-139del MANE Select	NP_000144.2:n.622-143_622-139del
NM_001201401.2:c.553-143_553-139del	NP_001188330.1:n.553-143_553-139del
NM_001201402.2:c.544-143_544-139del	NP_001188331.1:n.544-143_544-139del