Canonical Allele Identifier: CA2578329379

Gene: MARVELD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420187_69420188del , CM000667.2:g.69420187_69420188del	GRCh38
NC_000005.9:g.68716014_68716015del , CM000667.1:g.68716014_68716015del	GRCh37
NC_000005.8:g.68751770_68751771del	NCBI36
NG_017201.1:g.10076_10077del
NG_017201.2:g.10076_10077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.802_803del MANE Select	ENSP00000323264.5:p.Ile268TyrfsTer19
ENST00000413223.3:c.725+77_725+78del	ENSP00000398922.2:n.725+77_725+78del
ENST00000436532.7:c.725+77_725+78del	ENSP00000414776.2:n.725+77_725+78del
ENST00000645446.1:c.802_803del	ENSP00000494616.1:p.Ile268TyrfsTer19
ENST00000647531.1:c.802_803del	ENSP00000493858.1:p.Ile268TyrfsTer19
ENST00000325631.9:c.802_803del	ENSP00000323264.5:p.Ile268TyrfsTer19
ENST00000413223.2:c.725+77_725+78del	ENSP00000398922.2:n.725+77_725+78del
ENST00000436532.6:c.725+77_725+78del	ENSP00000414776.2:n.725+77_725+78del
ENST00000454295.6:c.802_803del	ENSP00000396244.2:p.Ile268TyrfsTer19
ENST00000512803.5:c.802_803del	ENSP00000423490.1:p.Ile268TyrfsTer19
NM_001038603.2:c.802_803del	NP_001033692.2:p.Ile268TyrfsTer19
NM_001244734.1:c.802_803del	NP_001231663.1:p.Ile268TyrfsTer19
XM_005248445.3:c.802_803del	XP_005248502.1:p.Ile268TyrfsTer19
XM_005248446.3:c.802_803del	XP_005248503.1:p.Ile268TyrfsTer19
XM_005248447.3:c.802_803del	XP_005248504.1:p.Ile268TyrfsTer19
XM_005248445.4:c.802_803del	XP_005248502.1:p.Ile268TyrfsTer19
XM_005248446.4:c.802_803del	XP_005248503.1:p.Ile268TyrfsTer19
XM_005248447.4:c.802_803del	XP_005248504.1:p.Ile268TyrfsTer19
NM_001038603.3:c.802_803del MANE Select	NP_001033692.2:p.Ile268TyrfsTer19
NM_001244734.2:c.802_803del	NP_001231663.1:p.Ile268TyrfsTer19