Canonical Allele Identifier: CA1553917537
Gene: MARVELD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.69420564_69420566delinsGTA , CM000667.2:g.69420564_69420566delinsGTA GRCh38
NC_000005.9:g.68716391_68716393delinsGTA , CM000667.1:g.68716391_68716393delinsGTA GRCh37
NC_000005.8:g.68752147_68752149delinsGTA NCBI36
NG_017201.1:g.10453_10455delinsGTA
NG_017201.2:g.10453_10455delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000325631.10:c.1146+33_1146+35delinsGTA MANE Select ENSP00000323264.5:n.1146+33_1146+35delinsGTA
ENST00000413223.3:c.798+33_798+35delinsGTA ENSP00000398922.2:n.798+33_798+35delinsGTA
ENST00000436532.7:c.798+33_798+35delinsGTA ENSP00000414776.2:n.798+33_798+35delinsGTA
ENST00000645446.1:c.1146+33_1146+35delinsGTA ENSP00000494616.1:n.1146+33_1146+35delinsGTA
ENST00000647531.1:c.1146+33_1146+35delinsGTA ENSP00000493858.1:n.1146+33_1146+35delinsGTA
ENST00000325631.9:c.1146+33_1146+35delinsGTA ENSP00000323264.5:n.1146+33_1146+35delinsGTA
ENST00000413223.2:c.798+33_798+35delinsGTA ENSP00000398922.2:n.798+33_798+35delinsGTA
ENST00000436532.6:c.798+33_798+35delinsGTA ENSP00000414776.2:n.798+33_798+35delinsGTA
ENST00000454295.6:c.1146+33_1146+35delinsGTA ENSP00000396244.2:n.1146+33_1146+35delinsGTA
ENST00000512803.5:c.1146+33_1146+35delinsGTA ENSP00000423490.1:n.1146+33_1146+35delinsGTA
NM_001038603.2:c.1146+33_1146+35delinsGTA NP_001033692.2:n.1146+33_1146+35delinsGTA
NM_001244734.1:c.1146+33_1146+35delinsGTA NP_001231663.1:n.1146+33_1146+35delinsGTA
XM_005248445.3:c.1146+33_1146+35delinsGTA XP_005248502.1:n.1146+33_1146+35delinsGTA
XM_005248446.3:c.1146+33_1146+35delinsGTA XP_005248503.1:n.1146+33_1146+35delinsGTA
XM_005248447.3:c.1146+33_1146+35delinsGTA XP_005248504.1:n.1146+33_1146+35delinsGTA
XM_005248445.4:c.1146+33_1146+35delinsGTA XP_005248502.1:n.1146+33_1146+35delinsGTA
XM_005248446.4:c.1146+33_1146+35delinsGTA XP_005248503.1:n.1146+33_1146+35delinsGTA
XM_005248447.4:c.1146+33_1146+35delinsGTA XP_005248504.1:n.1146+33_1146+35delinsGTA
NM_001038603.3:c.1146+33_1146+35delinsGTA MANE Select NP_001033692.2:n.1146+33_1146+35delinsGTA
NM_001244734.2:c.1146+33_1146+35delinsGTA NP_001231663.1:n.1146+33_1146+35delinsGTA