Canonical Allele Identifier: CA1158979334

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846059_23846060insTTAGTCAGTC , CM000663.2:g.23846059_23846060insTTAGTCAGTC	GRCh38
NC_000001.10:g.24172549_24172550insTTAGTCAGTC , CM000663.1:g.24172549_24172550insTTAGTCAGTC	GRCh37
NC_000001.9:g.24045136_24045137insTTAGTCAGTC	NCBI36
NG_013346.1:g.27310_27311insGACTGACTAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1260+14_1260+15insGACTGACTAA MANE Select	NP_000138.2:n.1260+14_1260+15insGACTGACTAA
ENST00000374479.4:c.1260+14_1260+15insGACTGACTAA MANE Select	ENSP00000363603.3:n.1260+14_1260+15insGACTGACTAA
NM_000147.4:c.1260+14_1260+15insGACTGACTAA	NP_000138.2:n.1260+14_1260+15insGACTGACTAA
NR_174379.1:n.1438+14_1438+15insGACTGACTAA
NR_174380.1:n.1487+14_1487+15insGACTGACTAA
NR_174381.1:n.1326+14_1326+15insGACTGACTAA
NR_174382.1:n.1723+14_1723+15insGACTGACTAA
ENST00000374479.3:c.1260+14_1260+15insGACTGACTAA	ENSP00000363603.3:n.1260+14_1260+15insGACTGACTAA
XM_005245821.1:c.885+14_885+15insGACTGACTAA	XP_005245878.1:n.885+14_885+15insGACTGACTAA
XM_005245821.3:c.885+14_885+15insGACTGACTAA	XP_005245878.1:n.885+14_885+15insGACTGACTAA
XM_011541167.1:c.627+14_627+15insGACTGACTAA	XP_011539469.1:n.627+14_627+15insGACTGACTAA
XM_011541167.3:c.627+14_627+15insGACTGACTAA	XP_011539469.1:n.627+14_627+15insGACTGACTAA
XM_017000905.2:c.957+14_957+15insGACTGACTAA	XP_016856394.1:n.957+14_957+15insGACTGACTAA