Canonical Allele Identifier: CA2153381935

Gene: GALC

Linked Data

• dbSNP Id: rs1886510847

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976768_87976769del , CM000676.2:g.87976768_87976769del	GRCh38
NC_000014.8:g.88443112_88443113del , CM000676.1:g.88443112_88443113del	GRCh37
NC_000014.7:g.87512865_87512866del	NCBI36
NG_011853.2:g.21795_21796del
NG_011853.3:g.21795_21796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-281_622-280del MANE Select	ENSP00000261304.2:n.622-281_622-280del
ENST00000261304.6:c.622-281_622-280del	ENSP00000261304.2:n.622-281_622-280del
ENST00000393568.8:c.553-281_553-280del	ENSP00000377198.4:n.553-281_553-280del
ENST00000393569.6:c.544-281_544-280del	ENSP00000377199.2:n.544-281_544-280del
ENST00000474294.6:n.612-281_612-280del
ENST00000477716.3:n.96_97del
ENST00000544807.6:c.454-281_454-280del	ENSP00000437513.2:n.454-281_454-280del
ENST00000554916.5:n.501-281_501-280del
ENST00000555000.5:c.-12-281_-12-280del	ENSP00000450472.1:n.-12-281_-12-280del
ENST00000557316.5:c.*20-281_*20-280del	ENSP00000452314.1:n.*20-281_*20-280del
ENST00000622264.4:c.612-281_612-280del
NM_000153.3:c.622-281_622-280del	NP_000144.2:n.622-281_622-280del
NM_001201401.1:c.553-281_553-280del	NP_001188330.1:n.553-281_553-280del
NM_001201402.1:c.544-281_544-280del	NP_001188331.1:n.544-281_544-280del
XM_011536618.1:c.454-281_454-280del	XP_011534920.1:n.454-281_454-280del
XM_011536618.2:c.454-281_454-280del	XP_011534920.1:n.454-281_454-280del
NM_000153.4:c.622-281_622-280del MANE Select	NP_000144.2:n.622-281_622-280del
NM_001201401.2:c.553-281_553-280del	NP_001188330.1:n.553-281_553-280del
NM_001201402.2:c.544-281_544-280del	NP_001188331.1:n.544-281_544-280del