Canonical Allele Identifier: CA1077191978

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 1325909
• ClinVar RCV Id: RCV001785970
• dbSNP Id: rs1766539157
• gnomAD v3: 5-69419582-CAGA-C
• gnomAD v4: 5-69419582-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419587_69419589del , CM000667.2:g.69419587_69419589del	GRCh38
NC_000005.9:g.68715414_68715416del , CM000667.1:g.68715414_68715416del	GRCh37
NC_000005.8:g.68751170_68751172del	NCBI36
NG_017201.1:g.9476_9478del
NG_017201.2:g.9476_9478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.202_204del MANE Select	ENSP00000323264.5:p.Glu68del
ENST00000413223.3:c.202_204del	ENSP00000398922.2:p.Glu68del
ENST00000436532.7:c.202_204del	ENSP00000414776.2:p.Glu68del
ENST00000645446.1:c.202_204del	ENSP00000494616.1:p.Glu68del
ENST00000647531.1:c.202_204del	ENSP00000493858.1:p.Glu68del
ENST00000325631.9:c.202_204del	ENSP00000323264.5:p.Glu68del
ENST00000413223.2:c.202_204del	ENSP00000398922.2:p.Glu68del
ENST00000436532.6:c.202_204del	ENSP00000414776.2:p.Glu68del
ENST00000454295.6:c.202_204del	ENSP00000396244.2:p.Glu68del
ENST00000512803.5:c.202_204del	ENSP00000423490.1:p.Glu68del
ENST00000515844.1:c.202_204del	ENSP00000421902.1:p.Glu68del
NM_001038603.2:c.202_204del	NP_001033692.2:p.Glu68del
NM_001244734.1:c.202_204del	NP_001231663.1:p.Glu68del
XM_005248445.3:c.202_204del	XP_005248502.1:p.Glu68del
XM_005248446.3:c.202_204del	XP_005248503.1:p.Glu68del
XM_005248447.3:c.202_204del	XP_005248504.1:p.Glu68del
XM_005248445.4:c.202_204del	XP_005248502.1:p.Glu68del
XM_005248446.4:c.202_204del	XP_005248503.1:p.Glu68del
XM_005248447.4:c.202_204del	XP_005248504.1:p.Glu68del
NM_001038603.3:c.202_204del MANE Select	NP_001033692.2:p.Glu68del
NM_001244734.2:c.202_204del	NP_001231663.1:p.Glu68del