Canonical Allele Identifier: CA560299380

Gene: MARVELD2

Linked Data

• dbSNP Id: rs1398345807
• gnomAD v2: 5-68716001-TTGGATCACCACCATTATTATTC-T
• gnomAD v4: 5-69420174-TTGGATCACCACCATTATTATTC-T
• MyVariant Identifiers: chr5:g.68716002_68716023del (hg19) ; chr5:g.69420175_69420196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420178_69420199del , CM000667.2:g.69420178_69420199del	GRCh38
NC_000005.9:g.68716005_68716026del , CM000667.1:g.68716005_68716026del	GRCh37
NC_000005.8:g.68751761_68751782del	NCBI36
NG_017201.1:g.10067_10088del
NG_017201.2:g.10067_10088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.793_814del MANE Select	ENSP00000323264.5:p.Ile265PhefsTer20
ENST00000413223.3:c.725+68_725+89del	ENSP00000398922.2:n.725+68_725+89del
ENST00000436532.7:c.725+68_725+89del	ENSP00000414776.2:n.725+68_725+89del
ENST00000645446.1:c.793_814del	ENSP00000494616.1:p.Ile265PhefsTer20
ENST00000647531.1:c.793_814del	ENSP00000493858.1:p.Ile265PhefsTer20
ENST00000325631.9:c.793_814del	ENSP00000323264.5:p.Ile265PhefsTer20
ENST00000413223.2:c.725+68_725+89del	ENSP00000398922.2:n.725+68_725+89del
ENST00000436532.6:c.725+68_725+89del	ENSP00000414776.2:n.725+68_725+89del
ENST00000454295.6:c.793_814del	ENSP00000396244.2:p.Ile265PhefsTer20
ENST00000512803.5:c.793_814del	ENSP00000423490.1:p.Ile265PhefsTer20
NM_001038603.2:c.793_814del	NP_001033692.2:p.Ile265PhefsTer20
NM_001244734.1:c.793_814del	NP_001231663.1:p.Ile265PhefsTer20
XM_005248445.3:c.793_814del	XP_005248502.1:p.Ile265PhefsTer20
XM_005248446.3:c.793_814del	XP_005248503.1:p.Ile265PhefsTer20
XM_005248447.3:c.793_814del	XP_005248504.1:p.Ile265PhefsTer20
XM_005248445.4:c.793_814del	XP_005248502.1:p.Ile265PhefsTer20
XM_005248446.4:c.793_814del	XP_005248503.1:p.Ile265PhefsTer20
XM_005248447.4:c.793_814del	XP_005248504.1:p.Ile265PhefsTer20
NM_001038603.3:c.793_814del MANE Select	NP_001033692.2:p.Ile265PhefsTer20
NM_001244734.2:c.793_814del	NP_001231663.1:p.Ile265PhefsTer20