Canonical Allele Identifier: CA1553915781

Gene: MARVELD2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419523_69419553delinsGCCACCACCCCCTCTCCCATTACAGCCACCA , CM000667.2:g.69419523_69419553delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	GRCh38
NC_000005.9:g.68715350_68715380delinsGCCACCACCCCCTCTCCCATTACAGCCACCA , CM000667.1:g.68715350_68715380delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	GRCh37
NC_000005.8:g.68751106_68751136delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	NCBI36
NG_017201.1:g.9412_9442delinsGCCACCACCCCCTCTCCCATTACAGCCACCA
NG_017201.2:g.9412_9442delinsGCCACCACCCCCTCTCCCATTACAGCCACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA MANE Select	ENSP00000323264.5:p.Leu46=
ENST00000413223.3:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000398922.2:p.Leu46=
ENST00000436532.7:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000414776.2:p.Leu46=
ENST00000645446.1:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000494616.1:p.Leu46=
ENST00000647531.1:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000493858.1:p.Leu46=
ENST00000325631.9:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000323264.5:p.Leu46=
ENST00000413223.2:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000398922.2:p.Leu46=
ENST00000436532.6:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000414776.2:p.Leu46=
ENST00000454295.6:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000396244.2:p.Leu46=
ENST00000512803.5:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000423490.1:p.Leu46=
ENST00000515844.1:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	ENSP00000421902.1:p.Leu46=
NM_001038603.2:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	NP_001033692.2:p.Leu46=
NM_001244734.1:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	NP_001231663.1:p.Leu46=
XM_005248445.3:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	XP_005248502.1:p.Leu46=
XM_005248446.3:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	XP_005248503.1:p.Leu46=
XM_005248447.3:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	XP_005248504.1:p.Leu46=
XM_005248445.4:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	XP_005248502.1:p.Leu46=
XM_005248446.4:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	XP_005248503.1:p.Leu46=
XM_005248447.4:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	XP_005248504.1:p.Leu46=
NM_001038603.3:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA MANE Select	NP_001033692.2:p.Leu46=
NM_001244734.2:c.138_168delinsGCCACCACCCCCTCTCCCATTACAGCCACCA	NP_001231663.1:p.Leu46=