Canonical Allele Identifier: CA2153356551

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945601_87945603delinsCAT , CM000676.2:g.87945601_87945603delinsCAT	GRCh38
NC_000014.8:g.88411945_88411947delinsCAT , CM000676.1:g.88411945_88411947delinsCAT	GRCh37
NC_000014.7:g.87481698_87481700delinsCAT	NCBI36
NG_011853.3:g.52961_52963delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1620_1622delinsATG MANE Select	ENSP00000261304.2:p.Thr540=
ENST00000261304.6:c.1620_1622delinsATG	ENSP00000261304.2:p.Thr540=
ENST00000393568.8:c.1551_1553delinsATG	ENSP00000377198.4:p.Thr517=
ENST00000393569.6:c.1542_1544delinsATG	ENSP00000377199.2:p.Thr514=
ENST00000544807.6:c.1452_1454delinsATG	ENSP00000437513.2:p.Thr484=
ENST00000555000.5:c.987_989delinsATG	ENSP00000450472.1:p.Thr329=
ENST00000555179.1:c.206+2125_206+2127delinsATG
ENST00000557316.5:c.*1018_*1020delinsATG	ENSP00000452314.1:n.*1018_*1020delinsATG
XM_011536618.1:c.1452_1454delinsATG	XP_011534920.1:p.Thr484=
XM_011536618.2:c.1452_1454delinsATG	XP_011534920.1:p.Thr484=
NM_000153.4:c.1620_1622delinsATG MANE Select	NP_000144.2:p.Thr540=
NM_001201401.2:c.1551_1553delinsATG	NP_001188330.1:p.Thr517=
NM_001201402.2:c.1542_1544delinsATG	NP_001188331.1:p.Thr514=