Canonical Allele Identifier: CA3294115

Gene: MARVELD2

Linked Data

• ClinVar Variation Id: 817776
• ClinVar RCV Id: RCV001008992
• dbSNP Id: rs748539820
• ExAC: 5:68716009 CCA / C
• gnomAD v2: 5-68716009-CCA-C
• gnomAD v3: 5-69420182-CCA-C
• gnomAD v4: 5-69420182-CCA-C
• MyVariant Identifiers: chr5:g.68716010_68716011del (hg19) ; chr5:g.69420183_69420184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420184_69420185del , CM000667.2:g.69420184_69420185del	GRCh38
NC_000005.9:g.68716011_68716012del , CM000667.1:g.68716011_68716012del	GRCh37
NC_000005.8:g.68751767_68751768del	NCBI36
NG_017201.1:g.10073_10074del
NG_017201.2:g.10073_10074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.799_800del MANE Select	ENSP00000323264.5:p.Thr267HisfsTer20
ENST00000413223.3:c.725+74_725+75del	ENSP00000398922.2:n.725+74_725+75del
ENST00000436532.7:c.725+74_725+75del	ENSP00000414776.2:n.725+74_725+75del
ENST00000645446.1:c.799_800del	ENSP00000494616.1:p.Thr267HisfsTer20
ENST00000647531.1:c.799_800del	ENSP00000493858.1:p.Thr267HisfsTer20
ENST00000325631.9:c.799_800del	ENSP00000323264.5:p.Thr267HisfsTer20
ENST00000413223.2:c.725+74_725+75del	ENSP00000398922.2:n.725+74_725+75del
ENST00000436532.6:c.725+74_725+75del	ENSP00000414776.2:n.725+74_725+75del
ENST00000454295.6:c.799_800del	ENSP00000396244.2:p.Thr267HisfsTer20
ENST00000512803.5:c.799_800del	ENSP00000423490.1:p.Thr267HisfsTer20
NM_001038603.2:c.799_800del	NP_001033692.2:p.Thr267HisfsTer20
NM_001244734.1:c.799_800del	NP_001231663.1:p.Thr267HisfsTer20
XM_005248445.3:c.799_800del	XP_005248502.1:p.Thr267HisfsTer20
XM_005248446.3:c.799_800del	XP_005248503.1:p.Thr267HisfsTer20
XM_005248447.3:c.799_800del	XP_005248504.1:p.Thr267HisfsTer20
XM_005248445.4:c.799_800del	XP_005248502.1:p.Thr267HisfsTer20
XM_005248446.4:c.799_800del	XP_005248503.1:p.Thr267HisfsTer20
XM_005248447.4:c.799_800del	XP_005248504.1:p.Thr267HisfsTer20
NM_001038603.3:c.799_800del MANE Select	NP_001033692.2:p.Thr267HisfsTer20
NM_001244734.2:c.799_800del	NP_001231663.1:p.Thr267HisfsTer20