Canonical Allele Identifier: CA2062444198

Gene: MMAB

Linked Data

• ClinVar Variation Id: 1979899
• ClinVar RCV Id: RCV002756216
• dbSNP Id: rs1884009515

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557132dup , CM000674.2:g.109557132dup	GRCh38
NC_000012.11:g.109994937dup , CM000674.1:g.109994937dup	GRCh37
NC_000012.10:g.108479320dup	NCBI36
NG_007096.1:g.21366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.649dup MANE Select	ENSP00000445920.1:p.Ser217LysfsTer2
ENST00000537496.5:c.*214dup	ENSP00000444793.1:n.*214dup
ENST00000540016.5:c.493dup	ENSP00000474582.1:p.Ser165LysfsTer2
ENST00000541763.6:c.874dup	ENSP00000474981.1:n.874dup
ENST00000544051.5:c.*530dup	ENSP00000438079.1:n.*530dup
ENST00000545712.6:c.649dup	ENSP00000445920.1:p.Ser217LysfsTer2
NM_052845.3:c.649dup	NP_443077.1:p.Ser217LysfsTer2
NR_038118.1:n.809dup
XM_011538266.1:c.494dup	XP_011536568.1:p.Ter166ValextTer7
XM_011538267.1:c.494dup	XP_011536569.1:p.Ter166ValextTer7
XM_011538268.1:c.376dup	XP_011536570.1:p.Ser126LysfsTer2
XM_011538269.1:c.373dup	XP_011536571.1:p.Ser125LysfsTer2
XM_011538267.3:c.494dup	XP_011536569.1:p.Ter166ValextTer7
XM_011538268.2:c.376dup	XP_011536570.1:p.Ser126LysfsTer2
XM_011538269.2:c.373dup	XP_011536571.1:p.Ser125LysfsTer2
NM_052845.4:c.649dup MANE Select	NP_443077.1:p.Ser217LysfsTer2
NR_038118.2:n.760dup