Canonical Allele Identifier: CA2625958950

Gene: GALC

Linked Data

• gnomAD v4: 14-87934672-GAACCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934681_87934686del , CM000676.2:g.87934681_87934686del	GRCh38
NC_000014.8:g.88401025_88401030del , CM000676.1:g.88401025_88401030del	GRCh37
NC_000014.7:g.87470778_87470783del	NCBI36
NG_011853.2:g.63886_63891del
NG_011853.3:g.63886_63891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*54_*59del MANE Select	ENSP00000261304.2:n.*54_*59del
ENST00000261304.6:c.*54_*59del	ENSP00000261304.2:n.*54_*59del
ENST00000393569.6:c.*54_*59del	ENSP00000377199.2:n.*54_*59del
ENST00000544807.6:c.1744-679_1744-674del	ENSP00000437513.2:n.1744-679_1744-674del
ENST00000555000.5:c.1279-679_1279-674del	ENSP00000450472.1:n.1279-679_1279-674del
NM_000153.3:c.*54_*59del	NP_000144.2:n.*54_*59del
NM_001201401.1:c.*54_*59del	NP_001188330.1:n.*54_*59del
NM_001201402.1:c.*54_*59del	NP_001188331.1:n.*54_*59del
XM_011536618.1:c.*54_*59del	XP_011534920.1:n.*54_*59del
XM_011536618.2:c.*54_*59del	XP_011534920.1:n.*54_*59del
NM_000153.4:c.*54_*59del MANE Select	NP_000144.2:n.*54_*59del
NM_001201401.2:c.*54_*59del	NP_001188330.1:n.*54_*59del
NM_001201402.2:c.*54_*59del	NP_001188331.1:n.*54_*59del