Canonical Allele Identifier: CA1553915836

Gene: MARVELD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419558_69419561delinsGCCC , CM000667.2:g.69419558_69419561delinsGCCC	GRCh38
NC_000005.9:g.68715385_68715388delinsGCCC , CM000667.1:g.68715385_68715388delinsGCCC	GRCh37
NC_000005.8:g.68751141_68751144delinsGCCC	NCBI36
NG_017201.1:g.9447_9450delinsGCCC
NG_017201.2:g.9447_9450delinsGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.173_176delinsGCCC MANE Select	ENSP00000323264.5:p.Gly58=
ENST00000413223.3:c.173_176delinsGCCC	ENSP00000398922.2:p.Gly58=
ENST00000436532.7:c.173_176delinsGCCC	ENSP00000414776.2:p.Gly58=
ENST00000645446.1:c.173_176delinsGCCC	ENSP00000494616.1:p.Gly58=
ENST00000647531.1:c.173_176delinsGCCC	ENSP00000493858.1:p.Gly58=
ENST00000325631.9:c.173_176delinsGCCC	ENSP00000323264.5:p.Gly58=
ENST00000413223.2:c.173_176delinsGCCC	ENSP00000398922.2:p.Gly58=
ENST00000436532.6:c.173_176delinsGCCC	ENSP00000414776.2:p.Gly58=
ENST00000454295.6:c.173_176delinsGCCC	ENSP00000396244.2:p.Gly58=
ENST00000512803.5:c.173_176delinsGCCC	ENSP00000423490.1:p.Gly58=
ENST00000515844.1:c.173_176delinsGCCC	ENSP00000421902.1:p.Gly58=
NM_001038603.2:c.173_176delinsGCCC	NP_001033692.2:p.Gly58=
NM_001244734.1:c.173_176delinsGCCC	NP_001231663.1:p.Gly58=
XM_005248445.3:c.173_176delinsGCCC	XP_005248502.1:p.Gly58=
XM_005248446.3:c.173_176delinsGCCC	XP_005248503.1:p.Gly58=
XM_005248447.3:c.173_176delinsGCCC	XP_005248504.1:p.Gly58=
XM_005248445.4:c.173_176delinsGCCC	XP_005248502.1:p.Gly58=
XM_005248446.4:c.173_176delinsGCCC	XP_005248503.1:p.Gly58=
XM_005248447.4:c.173_176delinsGCCC	XP_005248504.1:p.Gly58=
NM_001038603.3:c.173_176delinsGCCC MANE Select	NP_001033692.2:p.Gly58=
NM_001244734.2:c.173_176delinsGCCC	NP_001231663.1:p.Gly58=