Canonical Allele Identifier: CA2561661327

Gene: GALC

Linked Data

• gnomAD v4: 14-87982120-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982122_87982123del , CM000676.2:g.87982122_87982123del	GRCh38
NC_000014.8:g.88448466_88448467del , CM000676.1:g.88448466_88448467del	GRCh37
NC_000014.7:g.87518219_87518220del	NCBI36
NG_011853.2:g.16442_16443del
NG_011853.3:g.16442_16443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+83_621+84del MANE Select	ENSP00000261304.2:n.621+83_621+84del
ENST00000261304.6:c.621+83_621+84del	ENSP00000261304.2:n.621+83_621+84del
ENST00000393568.8:c.552+83_552+84del	ENSP00000377198.4:n.552+83_552+84del
ENST00000393569.6:c.543+83_543+84del	ENSP00000377199.2:n.543+83_543+84del
ENST00000474294.6:n.611+83_611+84del
ENST00000544807.6:c.453+83_453+84del	ENSP00000437513.2:n.453+83_453+84del
ENST00000554916.5:n.500+83_500+84del
ENST00000556261.5:n.322+83_322+84del
ENST00000557316.5:c.621+83_621+84del	ENSP00000452314.1:n.621+83_621+84del
ENST00000622264.4:c.611+83_611+84del
NM_000153.3:c.621+83_621+84del	NP_000144.2:n.621+83_621+84del
NM_001201401.1:c.552+83_552+84del	NP_001188330.1:n.552+83_552+84del
NM_001201402.1:c.543+83_543+84del	NP_001188331.1:n.543+83_543+84del
XM_011536618.1:c.453+83_453+84del	XP_011534920.1:n.453+83_453+84del
XM_011536618.2:c.453+83_453+84del	XP_011534920.1:n.453+83_453+84del
NM_000153.4:c.621+83_621+84del MANE Select	NP_000144.2:n.621+83_621+84del
NM_001201401.2:c.552+83_552+84del	NP_001188330.1:n.552+83_552+84del
NM_001201402.2:c.543+83_543+84del	NP_001188331.1:n.543+83_543+84del