Canonical Allele Identifier: CA1077201710

Gene: MARVELD2

Linked Data

• gnomAD v3: 5-69433153-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 5-69433153-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.69433177_69433178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.68729004_68729005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.68729004_68729005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.68764760_68764761insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_017201.1:g.23066_23067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NG_017201.2:g.23066_23067insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000323264.5:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000413223.3:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000398922.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000436532.7:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000414776.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000645446.1:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000494616.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000647531.1:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000493858.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000325631.9:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000323264.5:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000413223.2:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000398922.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000436532.6:c.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000414776.2:n.1155+84_1155+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000454295.6:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000396244.2:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000512803.5:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000423490.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTT...
NM_001038603.2:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001033692.2:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001244734.1:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001231663.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248445.3:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248502.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248446.3:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248503.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248447.3:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248504.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248445.4:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248502.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248446.4:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248503.1:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005248447.4:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005248504.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001038603.3:c.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_001033692.2:n.1503+84_1503+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001244734.2:c.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001231663.1:n.1467+84_1467+85insTTTTTTTTTTTTTTTTTTTTTTTTTT...