Canonical Allele Identifier: CA2578205139

Gene: MMAA

Linked Data

• ClinVar Variation Id: 2676607
• ClinVar RCV Id: RCV003461860

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639399_145639406dup , CM000666.2:g.145639399_145639406dup	GRCh38
NC_000004.11:g.146560551_146560558dup , CM000666.1:g.146560551_146560558dup	GRCh37
NC_000004.10:g.146780001_146780008dup	NCBI36
NG_007536.1:g.25102_25109dup
NG_007536.2:g.45358_45365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.260_267dup	ENSP00000442284.3:p.Tyr90IlefsTer7
ENST00000647947.1:c.260_267dup	ENSP00000496781.1:p.Tyr90IlefsTer7
ENST00000648388.1:c.260_267dup	ENSP00000497046.1:p.Tyr90IlefsTer7
ENST00000649156.2:c.260_267dup MANE Select	ENSP00000497008.1:p.Tyr90IlefsTer7
ENST00000649173.1:c.260_267dup	ENSP00000497871.1:p.Tyr90IlefsTer7
ENST00000649704.1:c.260_267dup	ENSP00000497680.1:p.Tyr90IlefsTer7
ENST00000679563.1:c.260_267dup	ENSP00000506503.1:p.Tyr90IlefsTer7
ENST00000679930.1:c.260_267dup	ENSP00000506293.1:p.Tyr90IlefsTer7
ENST00000281317.9:c.260_267dup	ENSP00000281317.5:p.Tyr90IlefsTer7
ENST00000506919.1:n.748_755dup
ENST00000511969.4:c.260_267dup	ENSP00000427422.1:p.Tyr90IlefsTer7
ENST00000541599.4:c.260_267dup	ENSP00000442284.2:p.Tyr90IlefsTer7
NM_172250.2:c.260_267dup	NP_758454.1:p.Tyr90IlefsTer7
XM_011531684.1:c.260_267dup	XP_011529986.1:p.Tyr90IlefsTer7
XM_011531685.1:c.260_267dup	XP_011529987.1:p.Tyr90IlefsTer7
NM_172250.3:c.260_267dup MANE Select	NP_758454.1:p.Tyr90IlefsTer7
XM_011531684.3:c.260_267dup	XP_011529986.1:p.Tyr90IlefsTer7
XM_011531685.2:c.260_267dup	XP_011529987.1:p.Tyr90IlefsTer7
XM_011531686.2:c.-524_-517dup	XP_011529988.1:n.-524_-517dup
NM_001375644.1:c.260_267dup	NP_001362573.1:p.Tyr90IlefsTer7