Canonical Allele Identifier: CA637635706

Gene: MRAP

Linked Data

• ClinVar Variation Id: 444068
• ClinVar RCV Id: RCV002250648
• dbSNP Id: rs1476574441
• gnomAD v2: 21-33671388-CG-C
• gnomAD v3: 21-32299077-CG-C
• gnomAD v4: 21-32299077-CG-C
• MyVariant Identifiers: chr21:g.33671389del (hg19) ; chr21:g.32299078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.32299078del , CM000683.2:g.32299078del	GRCh38
NC_000021.8:g.33671389del , CM000683.1:g.33671389del	GRCh37
NC_000021.7:g.32593260del	NCBI36
NG_016234.1:g.12266del

Transcript Alleles

HGVS	Amino-acid change
ENST00000303645.10:c.106+1del MANE Select	ENSP00000306697.5:n.106+1del
ENST00000303645.9:c.106+1del	ENSP00000306697.5:n.106+1del
ENST00000339944.4:c.106+1del	ENSP00000343661.4:n.106+1del
ENST00000399784.6:c.106+1del	ENSP00000382684.2:n.106+1del
ENST00000497833.1:n.177+5946del
NM_001285394.1:c.-72+5946del	NP_001272323.1:n.-72+5946del
NM_178817.3:c.106+1del	NP_848932.1:n.106+1del
NM_206898.1:c.106+1del	NP_996781.1:n.106+1del
XM_006724028.2:c.106+1del	XP_006724091.1:n.106+1del
XM_006724028.3:c.106+1del	XP_006724091.1:n.106+1del
XM_017028407.1:c.106+1del	XP_016883896.1:n.106+1del
NM_001285394.2:c.-72+5946del	NP_001272323.1:n.-72+5946del
NM_178817.4:c.106+1del	NP_848932.1:n.106+1del
NM_001379228.1:c.106+1del MANE Select	NP_001366157.1:n.106+1del
NM_206898.2:c.106+1del	NP_996781.1:n.106+1del