Canonical Allele Identifier: CA1077192010

Gene: MARVELD2

Linked Data

• dbSNP Id: rs1766543293
• gnomAD v3: 5-69419667-AAAGG-A
• gnomAD v4: 5-69419667-AAAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419669_69419672del , CM000667.2:g.69419669_69419672del	GRCh38
NC_000005.9:g.68715496_68715499del , CM000667.1:g.68715496_68715499del	GRCh37
NC_000005.8:g.68751252_68751255del	NCBI36
NG_017201.1:g.9558_9561del
NG_017201.2:g.9558_9561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.284_287del MANE Select	ENSP00000323264.5:p.Lys95ThrfsTer?
ENST00000413223.3:c.284_287del	ENSP00000398922.2:p.Lys95ThrfsTer?
ENST00000436532.7:c.284_287del	ENSP00000414776.2:p.Lys95ThrfsTer?
ENST00000645446.1:c.284_287del	ENSP00000494616.1:p.Lys95ThrfsTer?
ENST00000647531.1:c.284_287del	ENSP00000493858.1:p.Lys95ThrfsTer?
ENST00000325631.9:c.284_287del	ENSP00000323264.5:p.Lys95ThrfsTer?
ENST00000413223.2:c.284_287del	ENSP00000398922.2:p.Lys95ThrfsTer?
ENST00000436532.6:c.284_287del	ENSP00000414776.2:p.Lys95ThrfsTer?
ENST00000454295.6:c.284_287del	ENSP00000396244.2:p.Lys95ThrfsTer?
ENST00000512803.5:c.284_287del	ENSP00000423490.1:p.Lys95ThrfsTer?
ENST00000515844.1:c.284_287del	ENSP00000421902.1:p.Lys95ThrfsTer?
NM_001038603.2:c.284_287del	NP_001033692.2:p.Lys95ThrfsTer?
NM_001244734.1:c.284_287del	NP_001231663.1:p.Lys95ThrfsTer?
XM_005248445.3:c.284_287del	XP_005248502.1:p.Lys95ThrfsTer?
XM_005248446.3:c.284_287del	XP_005248503.1:p.Lys95ThrfsTer?
XM_005248447.3:c.284_287del	XP_005248504.1:p.Lys95ThrfsTer?
XM_005248445.4:c.284_287del	XP_005248502.1:p.Lys95ThrfsTer?
XM_005248446.4:c.284_287del	XP_005248503.1:p.Lys95ThrfsTer?
XM_005248447.4:c.284_287del	XP_005248504.1:p.Lys95ThrfsTer?
NM_001038603.3:c.284_287del MANE Select	NP_001033692.2:p.Lys95ThrfsTer?
NM_001244734.2:c.284_287del	NP_001231663.1:p.Lys95ThrfsTer?