Canonical Allele Identifier: CA2674132107

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69420652-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420652_69420653insG , CM000667.2:g.69420652_69420653insG	GRCh38
NC_000005.9:g.68716479_68716480insG , CM000667.1:g.68716479_68716480insG	GRCh37
NC_000005.8:g.68752235_68752236insG	NCBI36
NG_017201.1:g.10541_10542insG
NG_017201.2:g.10541_10542insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1146+121_1146+122insG MANE Select	ENSP00000323264.5:n.1146+121_1146+122insG
ENST00000413223.3:c.798+121_798+122insG	ENSP00000398922.2:n.798+121_798+122insG
ENST00000436532.7:c.798+121_798+122insG	ENSP00000414776.2:n.798+121_798+122insG
ENST00000645446.1:c.1146+121_1146+122insG	ENSP00000494616.1:n.1146+121_1146+122insG
ENST00000647531.1:c.1146+121_1146+122insG	ENSP00000493858.1:n.1146+121_1146+122insG
ENST00000325631.9:c.1146+121_1146+122insG	ENSP00000323264.5:n.1146+121_1146+122insG
ENST00000413223.2:c.798+121_798+122insG	ENSP00000398922.2:n.798+121_798+122insG
ENST00000436532.6:c.798+121_798+122insG	ENSP00000414776.2:n.798+121_798+122insG
ENST00000454295.6:c.1146+121_1146+122insG	ENSP00000396244.2:n.1146+121_1146+122insG
ENST00000512803.5:c.1146+121_1146+122insG	ENSP00000423490.1:n.1146+121_1146+122insG
NM_001038603.2:c.1146+121_1146+122insG	NP_001033692.2:n.1146+121_1146+122insG
NM_001244734.1:c.1146+121_1146+122insG	NP_001231663.1:n.1146+121_1146+122insG
XM_005248445.3:c.1146+121_1146+122insG	XP_005248502.1:n.1146+121_1146+122insG
XM_005248446.3:c.1146+121_1146+122insG	XP_005248503.1:n.1146+121_1146+122insG
XM_005248447.3:c.1146+121_1146+122insG	XP_005248504.1:n.1146+121_1146+122insG
XM_005248445.4:c.1146+121_1146+122insG	XP_005248502.1:n.1146+121_1146+122insG
XM_005248446.4:c.1146+121_1146+122insG	XP_005248503.1:n.1146+121_1146+122insG
XM_005248447.4:c.1146+121_1146+122insG	XP_005248504.1:n.1146+121_1146+122insG
NM_001038603.3:c.1146+121_1146+122insG MANE Select	NP_001033692.2:n.1146+121_1146+122insG
NM_001244734.2:c.1146+121_1146+122insG	NP_001231663.1:n.1146+121_1146+122insG