Canonical Allele Identifier: CA813532978

Gene: MARVELD2

Linked Data

• dbSNP Id: rs1406674192
• MyVariant Identifiers: chr5:g.68715750_68715751insACCTGAGAT (hg19) ; chr5:g.69419923_69419924insACCTGAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419926_69419934dup , CM000667.2:g.69419926_69419934dup	GRCh38
NC_000005.9:g.68715753_68715761dup , CM000667.1:g.68715753_68715761dup	GRCh37
NC_000005.8:g.68751509_68751517dup	NCBI36
NG_017201.1:g.9815_9823dup
NG_017201.2:g.9815_9823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.541_549dup MANE Select	ENSP00000323264.5:p.Tyr183_Ser184insLeuArgTyr
ENST00000413223.3:c.541_549dup	ENSP00000398922.2:p.Tyr183_Ser184insLeuArgTyr
ENST00000436532.7:c.541_549dup	ENSP00000414776.2:p.Tyr183_Ser184insLeuArgTyr
ENST00000645446.1:c.541_549dup	ENSP00000494616.1:p.Tyr183_Ser184insLeuArgTyr
ENST00000647531.1:c.541_549dup	ENSP00000493858.1:p.Tyr183_Ser184insLeuArgTyr
ENST00000325631.9:c.541_549dup	ENSP00000323264.5:p.Tyr183_Ser184insLeuArgTyr
ENST00000413223.2:c.541_549dup	ENSP00000398922.2:p.Tyr183_Ser184insLeuArgTyr
ENST00000436532.6:c.541_549dup	ENSP00000414776.2:p.Tyr183_Ser184insLeuArgTyr
ENST00000454295.6:c.541_549dup	ENSP00000396244.2:p.Tyr183_Ser184insLeuArgTyr
ENST00000512803.5:c.541_549dup	ENSP00000423490.1:p.Tyr183_Ser184insLeuArgTyr
NM_001038603.2:c.541_549dup	NP_001033692.2:p.Tyr183_Ser184insLeuArgTyr
NM_001244734.1:c.541_549dup	NP_001231663.1:p.Tyr183_Ser184insLeuArgTyr
XM_005248445.3:c.541_549dup	XP_005248502.1:p.Tyr183_Ser184insLeuArgTyr
XM_005248446.3:c.541_549dup	XP_005248503.1:p.Tyr183_Ser184insLeuArgTyr
XM_005248447.3:c.541_549dup	XP_005248504.1:p.Tyr183_Ser184insLeuArgTyr
XM_005248445.4:c.541_549dup	XP_005248502.1:p.Tyr183_Ser184insLeuArgTyr
XM_005248446.4:c.541_549dup	XP_005248503.1:p.Tyr183_Ser184insLeuArgTyr
XM_005248447.4:c.541_549dup	XP_005248504.1:p.Tyr183_Ser184insLeuArgTyr
NM_001038603.3:c.541_549dup MANE Select	NP_001033692.2:p.Tyr183_Ser184insLeuArgTyr
NM_001244734.2:c.541_549dup	NP_001231663.1:p.Tyr183_Ser184insLeuArgTyr