Canonical Allele Identifier: CA2674132113

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69420653-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420653_69420654insT , CM000667.2:g.69420653_69420654insT	GRCh38
NC_000005.9:g.68716480_68716481insT , CM000667.1:g.68716480_68716481insT	GRCh37
NC_000005.8:g.68752236_68752237insT	NCBI36
NG_017201.1:g.10542_10543insT
NG_017201.2:g.10542_10543insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1146+122_1146+123insT MANE Select	ENSP00000323264.5:n.1146+122_1146+123insT
ENST00000413223.3:c.798+122_798+123insT	ENSP00000398922.2:n.798+122_798+123insT
ENST00000436532.7:c.798+122_798+123insT	ENSP00000414776.2:n.798+122_798+123insT
ENST00000645446.1:c.1146+122_1146+123insT	ENSP00000494616.1:n.1146+122_1146+123insT
ENST00000647531.1:c.1146+122_1146+123insT	ENSP00000493858.1:n.1146+122_1146+123insT
ENST00000325631.9:c.1146+122_1146+123insT	ENSP00000323264.5:n.1146+122_1146+123insT
ENST00000413223.2:c.798+122_798+123insT	ENSP00000398922.2:n.798+122_798+123insT
ENST00000436532.6:c.798+122_798+123insT	ENSP00000414776.2:n.798+122_798+123insT
ENST00000454295.6:c.1146+122_1146+123insT	ENSP00000396244.2:n.1146+122_1146+123insT
ENST00000512803.5:c.1146+122_1146+123insT	ENSP00000423490.1:n.1146+122_1146+123insT
NM_001038603.2:c.1146+122_1146+123insT	NP_001033692.2:n.1146+122_1146+123insT
NM_001244734.1:c.1146+122_1146+123insT	NP_001231663.1:n.1146+122_1146+123insT
XM_005248445.3:c.1146+122_1146+123insT	XP_005248502.1:n.1146+122_1146+123insT
XM_005248446.3:c.1146+122_1146+123insT	XP_005248503.1:n.1146+122_1146+123insT
XM_005248447.3:c.1146+122_1146+123insT	XP_005248504.1:n.1146+122_1146+123insT
XM_005248445.4:c.1146+122_1146+123insT	XP_005248502.1:n.1146+122_1146+123insT
XM_005248446.4:c.1146+122_1146+123insT	XP_005248503.1:n.1146+122_1146+123insT
XM_005248447.4:c.1146+122_1146+123insT	XP_005248504.1:n.1146+122_1146+123insT
NM_001038603.3:c.1146+122_1146+123insT MANE Select	NP_001033692.2:n.1146+122_1146+123insT
NM_001244734.2:c.1146+122_1146+123insT	NP_001231663.1:n.1146+122_1146+123insT