Canonical Allele Identifier: CA2153349666

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933181_87933182delinsCA , CM000676.2:g.87933181_87933182delinsCA	GRCh38
NC_000014.8:g.88399525_88399526delinsCA , CM000676.1:g.88399525_88399526delinsCA	GRCh37
NC_000014.7:g.87469278_87469279delinsCA	NCBI36
NG_011853.2:g.65382_65383delinsTG
NG_011853.3:g.65382_65383delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1550_*1551delinsTG MANE Select	ENSP00000261304.2:n.*1550_*1551delinsTG
ENST00000261304.6:c.*1550_*1551delinsTG	ENSP00000261304.2:n.*1550_*1551delinsTG
ENST00000555000.5:c.*74+717_*74+718delinsTG	ENSP00000450472.1:n.*74+717_*74+718delins...
NM_000153.3:c.*1550_*1551delinsTG	NP_000144.2:n.*1550_*1551delinsTG
NM_001201401.1:c.*1550_*1551delinsTG	NP_001188330.1:n.*1550_*1551delinsTG
NM_001201402.1:c.*1550_*1551delinsTG	NP_001188331.1:n.*1550_*1551delinsTG
XM_011536618.1:c.*1550_*1551delinsTG	XP_011534920.1:n.*1550_*1551delinsTG
XM_011536618.2:c.*1550_*1551delinsTG	XP_011534920.1:n.*1550_*1551delinsTG
NM_000153.4:c.*1550_*1551delinsTG MANE Select	NP_000144.2:n.*1550_*1551delinsTG
NM_001201401.2:c.*1550_*1551delinsTG	NP_001188330.1:n.*1550_*1551delinsTG
NM_001201402.2:c.*1550_*1551delinsTG	NP_001188331.1:n.*1550_*1551delinsTG