Canonical Allele Identifier: CA2674132114

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69420653-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420654_69420655del , CM000667.2:g.69420654_69420655del	GRCh38
NC_000005.9:g.68716481_68716482del , CM000667.1:g.68716481_68716482del	GRCh37
NC_000005.8:g.68752237_68752238del	NCBI36
NG_017201.1:g.10543_10544del
NG_017201.2:g.10543_10544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1146+123_1146+124del MANE Select	ENSP00000323264.5:n.1146+123_1146+124del
ENST00000413223.3:c.798+123_798+124del	ENSP00000398922.2:n.798+123_798+124del
ENST00000436532.7:c.798+123_798+124del	ENSP00000414776.2:n.798+123_798+124del
ENST00000645446.1:c.1146+123_1146+124del	ENSP00000494616.1:n.1146+123_1146+124del
ENST00000647531.1:c.1146+123_1146+124del	ENSP00000493858.1:n.1146+123_1146+124del
ENST00000325631.9:c.1146+123_1146+124del	ENSP00000323264.5:n.1146+123_1146+124del
ENST00000413223.2:c.798+123_798+124del	ENSP00000398922.2:n.798+123_798+124del
ENST00000436532.6:c.798+123_798+124del	ENSP00000414776.2:n.798+123_798+124del
ENST00000454295.6:c.1146+123_1146+124del	ENSP00000396244.2:n.1146+123_1146+124del
ENST00000512803.5:c.1146+123_1146+124del	ENSP00000423490.1:n.1146+123_1146+124del
NM_001038603.2:c.1146+123_1146+124del	NP_001033692.2:n.1146+123_1146+124del
NM_001244734.1:c.1146+123_1146+124del	NP_001231663.1:n.1146+123_1146+124del
XM_005248445.3:c.1146+123_1146+124del	XP_005248502.1:n.1146+123_1146+124del
XM_005248446.3:c.1146+123_1146+124del	XP_005248503.1:n.1146+123_1146+124del
XM_005248447.3:c.1146+123_1146+124del	XP_005248504.1:n.1146+123_1146+124del
XM_005248445.4:c.1146+123_1146+124del	XP_005248502.1:n.1146+123_1146+124del
XM_005248446.4:c.1146+123_1146+124del	XP_005248503.1:n.1146+123_1146+124del
XM_005248447.4:c.1146+123_1146+124del	XP_005248504.1:n.1146+123_1146+124del
NM_001038603.3:c.1146+123_1146+124del MANE Select	NP_001033692.2:n.1146+123_1146+124del
NM_001244734.2:c.1146+123_1146+124del	NP_001231663.1:n.1146+123_1146+124del