Canonical Allele Identifier: CA2674131175

Gene: MARVELD2

Linked Data

• gnomAD v4: 5-69419731-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69419737_69419739del , CM000667.2:g.69419737_69419739del	GRCh38
NC_000005.9:g.68715564_68715566del , CM000667.1:g.68715564_68715566del	GRCh37
NC_000005.8:g.68751320_68751322del	NCBI36
NG_017201.1:g.9626_9628del
NG_017201.2:g.9626_9628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325631.10:c.352_354del MANE Select	ENSP00000323264.5:p.Pro118del
ENST00000413223.3:c.352_354del	ENSP00000398922.2:p.Pro118del
ENST00000436532.7:c.352_354del	ENSP00000414776.2:p.Pro118del
ENST00000645446.1:c.352_354del	ENSP00000494616.1:p.Pro118del
ENST00000647531.1:c.352_354del	ENSP00000493858.1:p.Pro118del
ENST00000325631.9:c.352_354del	ENSP00000323264.5:p.Pro118del
ENST00000413223.2:c.352_354del	ENSP00000398922.2:p.Pro118del
ENST00000436532.6:c.352_354del	ENSP00000414776.2:p.Pro118del
ENST00000454295.6:c.352_354del	ENSP00000396244.2:p.Pro118del
ENST00000512803.5:c.352_354del	ENSP00000423490.1:p.Pro118del
ENST00000515844.1:c.352_354del	ENSP00000421902.1:p.Pro118del
NM_001038603.2:c.352_354del	NP_001033692.2:p.Pro118del
NM_001244734.1:c.352_354del	NP_001231663.1:p.Pro118del
XM_005248445.3:c.352_354del	XP_005248502.1:p.Pro118del
XM_005248446.3:c.352_354del	XP_005248503.1:p.Pro118del
XM_005248447.3:c.352_354del	XP_005248504.1:p.Pro118del
XM_005248445.4:c.352_354del	XP_005248502.1:p.Pro118del
XM_005248446.4:c.352_354del	XP_005248503.1:p.Pro118del
XM_005248447.4:c.352_354del	XP_005248504.1:p.Pro118del
NM_001038603.3:c.352_354del MANE Select	NP_001033692.2:p.Pro118del
NM_001244734.2:c.352_354del	NP_001231663.1:p.Pro118del