Canonical Allele Identifier: CA2153352678

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939895_87939896delinsCA , CM000676.2:g.87939895_87939896delinsCA	GRCh38
NC_000014.8:g.88406239_88406240delinsCA , CM000676.1:g.88406239_88406240delinsCA	GRCh37
NC_000014.7:g.87475992_87475993delinsCA	NCBI36
NG_011853.2:g.58668_58669delinsTG
NG_011853.3:g.58668_58669delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1911+9_1911+10delinsTG MANE Select	ENSP00000261304.2:n.1911+9_1911+10delinsT...
ENST00000261304.6:c.1911+9_1911+10delinsTG	ENSP00000261304.2:n.1911+9_1911+10delinsT...
ENST00000393568.8:c.1842+9_1842+10delinsTG	ENSP00000377198.4:n.1842+9_1842+10delinsT...
ENST00000393569.6:c.1833+9_1833+10delinsTG	ENSP00000377199.2:n.1833+9_1833+10delinsT...
ENST00000544807.6:c.1743+9_1743+10delinsTG	ENSP00000437513.2:n.1743+9_1743+10delinsT...
ENST00000555000.5:c.1278+9_1278+10delinsTG	ENSP00000450472.1:n.1278+9_1278+10delinsT...
ENST00000555179.1:c.447+9_447+10delinsTG
NM_000153.3:c.1911+9_1911+10delinsTG	NP_000144.2:n.1911+9_1911+10delinsTG
NM_001201401.1:c.1842+9_1842+10delinsTG	NP_001188330.1:n.1842+9_1842+10delinsTG
NM_001201402.1:c.1833+9_1833+10delinsTG	NP_001188331.1:n.1833+9_1833+10delinsTG
XM_011536618.1:c.1743+9_1743+10delinsTG	XP_011534920.1:n.1743+9_1743+10delinsTG
XM_011536618.2:c.1743+9_1743+10delinsTG	XP_011534920.1:n.1743+9_1743+10delinsTG
NM_000153.4:c.1911+9_1911+10delinsTG MANE Select	NP_000144.2:n.1911+9_1911+10delinsTG
NM_001201401.2:c.1842+9_1842+10delinsTG	NP_001188330.1:n.1842+9_1842+10delinsTG
NM_001201402.2:c.1833+9_1833+10delinsTG	NP_001188331.1:n.1833+9_1833+10delinsTG