Canonical Allele Identifier: CA2625979032

Gene: GALC

Linked Data

• gnomAD v4: 14-87945569-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945571del , CM000676.2:g.87945571del	GRCh38
NC_000014.8:g.88411915del , CM000676.1:g.88411915del	GRCh37
NC_000014.7:g.87481668del	NCBI36
NG_011853.2:g.52994del
NG_011853.3:g.52994del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1653del MANE Select	ENSP00000261304.2:p.Ile552Ter
ENST00000261304.6:c.1653del	ENSP00000261304.2:p.Ile552Ter
ENST00000393568.8:c.1584del	ENSP00000377198.4:p.Ile529Ter
ENST00000393569.6:c.1575del	ENSP00000377199.2:p.Ile526Ter
ENST00000544807.6:c.1485del	ENSP00000437513.2:p.Ile496Ter
ENST00000555000.5:c.1020del	ENSP00000450472.1:p.Ile341Ter
ENST00000555179.1:c.206+2158del
ENST00000557316.5:c.*1051del	ENSP00000452314.1:n.*1051del
NM_000153.3:c.1653del	NP_000144.2:p.Ile552Ter
NM_001201401.1:c.1584del	NP_001188330.1:p.Ile529Ter
NM_001201402.1:c.1575del	NP_001188331.1:p.Ile526Ter
XM_011536618.1:c.1485del	XP_011534920.1:p.Ile496Ter
XM_011536618.2:c.1485del	XP_011534920.1:p.Ile496Ter
NM_000153.4:c.1653del MANE Select	NP_000144.2:p.Ile552Ter
NM_001201401.2:c.1584del	NP_001188330.1:p.Ile529Ter
NM_001201402.2:c.1575del	NP_001188331.1:p.Ile526Ter