Canonical Allele Identifier: CA559884867

Gene: MARVELD2

Linked Data

• dbSNP Id: rs1399080051
• gnomAD v2: 5-68716391-GTA-G
• gnomAD v3: 5-69420564-GTA-G
• gnomAD v4: 5-69420564-GTA-G
• MyVariant Identifiers: chr5:g.68716392_68716393del (hg19) ; chr5:g.69420565_69420566del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69420566_69420567del , CM000667.2:g.69420566_69420567del	GRCh38
NC_000005.9:g.68716393_68716394del , CM000667.1:g.68716393_68716394del	GRCh37
NC_000005.8:g.68752149_68752150del	NCBI36
NG_017201.1:g.10455_10456del
NG_017201.2:g.10455_10456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1146+35_1146+36del MANE Select	ENSP00000323264.5:n.1146+35_1146+36del
ENST00000413223.3:c.798+35_798+36del	ENSP00000398922.2:n.798+35_798+36del
ENST00000436532.7:c.798+35_798+36del	ENSP00000414776.2:n.798+35_798+36del
ENST00000645446.1:c.1146+35_1146+36del	ENSP00000494616.1:n.1146+35_1146+36del
ENST00000647531.1:c.1146+35_1146+36del	ENSP00000493858.1:n.1146+35_1146+36del
ENST00000325631.9:c.1146+35_1146+36del	ENSP00000323264.5:n.1146+35_1146+36del
ENST00000413223.2:c.798+35_798+36del	ENSP00000398922.2:n.798+35_798+36del
ENST00000436532.6:c.798+35_798+36del	ENSP00000414776.2:n.798+35_798+36del
ENST00000454295.6:c.1146+35_1146+36del	ENSP00000396244.2:n.1146+35_1146+36del
ENST00000512803.5:c.1146+35_1146+36del	ENSP00000423490.1:n.1146+35_1146+36del
NM_001038603.2:c.1146+35_1146+36del	NP_001033692.2:n.1146+35_1146+36del
NM_001244734.1:c.1146+35_1146+36del	NP_001231663.1:n.1146+35_1146+36del
XM_005248445.3:c.1146+35_1146+36del	XP_005248502.1:n.1146+35_1146+36del
XM_005248446.3:c.1146+35_1146+36del	XP_005248503.1:n.1146+35_1146+36del
XM_005248447.3:c.1146+35_1146+36del	XP_005248504.1:n.1146+35_1146+36del
XM_005248445.4:c.1146+35_1146+36del	XP_005248502.1:n.1146+35_1146+36del
XM_005248446.4:c.1146+35_1146+36del	XP_005248503.1:n.1146+35_1146+36del
XM_005248447.4:c.1146+35_1146+36del	XP_005248504.1:n.1146+35_1146+36del
NM_001038603.3:c.1146+35_1146+36del MANE Select	NP_001033692.2:n.1146+35_1146+36del
NM_001244734.2:c.1146+35_1146+36del	NP_001231663.1:n.1146+35_1146+36del