Canonical Allele Identifier: CA2153350326

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934749_87934753delinsCAAGA , CM000676.2:g.87934749_87934753delinsCAAGA	GRCh38
NC_000014.8:g.88401093_88401097delinsCAAGA , CM000676.1:g.88401093_88401097delinsCAAGA	GRCh37
NC_000014.7:g.87470846_87470850delinsCAAGA	NCBI36
NG_011853.2:g.63811_63815delinsTCTTG
NG_011853.3:g.63811_63815delinsTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2037_2041delinsTCTTG MANE Select	ENSP00000261304.2:p.Phe679=
ENST00000261304.6:c.2037_2041delinsTCTTG	ENSP00000261304.2:p.Phe679=
ENST00000393568.8:c.1968_1972delinsTCTTG	ENSP00000377198.4:p.Phe656=
ENST00000393569.6:c.1959_1963delinsTCTTG	ENSP00000377199.2:p.Phe653=
ENST00000544807.6:c.1744-754_1744-750delinsTCTTG	ENSP00000437513.2:n.1744-754_1744-750delinsTCTTG
ENST00000555000.5:c.1279-754_1279-750delinsTCTTG	ENSP00000450472.1:n.1279-754_1279-750delinsTCTTG
NM_000153.3:c.2037_2041delinsTCTTG	NP_000144.2:p.Phe679=
NM_001201401.1:c.1968_1972delinsTCTTG	NP_001188330.1:p.Phe656=
NM_001201402.1:c.1959_1963delinsTCTTG	NP_001188331.1:p.Phe653=
XM_011536618.1:c.1869_1873delinsTCTTG	XP_011534920.1:p.Phe623=
XM_011536618.2:c.1869_1873delinsTCTTG	XP_011534920.1:p.Phe623=
NM_000153.4:c.2037_2041delinsTCTTG MANE Select	NP_000144.2:p.Phe679=
NM_001201401.2:c.1968_1972delinsTCTTG	NP_001188330.1:p.Phe656=
NM_001201402.2:c.1959_1963delinsTCTTG	NP_001188331.1:p.Phe653=