Canonical Allele Identifier: CA2625978563

Gene: GALC

Linked Data

• gnomAD v4: 14-87939985-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939987del , CM000676.2:g.87939987del	GRCh38
NC_000014.8:g.88406331del , CM000676.1:g.88406331del	GRCh37
NC_000014.7:g.87476084del	NCBI36
NG_011853.2:g.58578del
NG_011853.3:g.58578del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1835-5del MANE Select	ENSP00000261304.2:n.1835-5del
ENST00000261304.6:c.1835-5del	ENSP00000261304.2:n.1835-5del
ENST00000393568.8:c.1766-5del	ENSP00000377198.4:n.1766-5del
ENST00000393569.6:c.1757-5del	ENSP00000377199.2:n.1757-5del
ENST00000544807.6:c.1667-5del	ENSP00000437513.2:n.1667-5del
ENST00000555000.5:c.1202-5del	ENSP00000450472.1:n.1202-5del
ENST00000555179.1:c.371-5del
NM_000153.3:c.1835-5del	NP_000144.2:n.1835-5del
NM_001201401.1:c.1766-5del	NP_001188330.1:n.1766-5del
NM_001201402.1:c.1757-5del	NP_001188331.1:n.1757-5del
XM_011536618.1:c.1667-5del	XP_011534920.1:n.1667-5del
XM_011536618.2:c.1667-5del	XP_011534920.1:n.1667-5del
NM_000153.4:c.1835-5del MANE Select	NP_000144.2:n.1835-5del
NM_001201401.2:c.1766-5del	NP_001188330.1:n.1766-5del
NM_001201402.2:c.1757-5del	NP_001188331.1:n.1757-5del