Canonical Allele Identifier: CA2695203899

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646018_145646022del , CM000666.2:g.145646018_145646022del	GRCh38
NC_000004.11:g.146567170_146567174del , CM000666.1:g.146567170_146567174del	GRCh37
NC_000004.10:g.146786620_146786624del	NCBI36
NG_007536.1:g.31721_31725del
NG_007536.2:g.51977_51981del

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.595_599del	ENSP00000442284.3:p.Glu199IlefsTer14
ENST00000647947.1:c.*379_*383del	ENSP00000496781.1:n.*379_*383del
ENST00000648388.1:c.595_599del	ENSP00000497046.1:p.Glu199IlefsTer14
ENST00000649156.2:c.595_599del MANE Select	ENSP00000497008.1:p.Glu199IlefsTer14
ENST00000649173.1:c.595_599del	ENSP00000497871.1:p.Glu199IlefsTer14
ENST00000649704.1:c.595_599del	ENSP00000497680.1:p.Glu199IlefsTer14
ENST00000679563.1:c.595_599del	ENSP00000506503.1:p.Glu199IlefsTer14
ENST00000679930.1:c.*114_*118del	ENSP00000506293.1:n.*114_*118del
ENST00000281317.9:c.595_599del	ENSP00000281317.5:p.Glu199IlefsTer14
ENST00000506919.1:n.1083_1087del
ENST00000511969.4:c.595_599del	ENSP00000427422.1:p.Glu199IlefsTer14
ENST00000541599.4:c.595_599del	ENSP00000442284.2:p.Glu199IlefsTer14
NM_172250.2:c.595_599del	NP_758454.1:p.Glu199IlefsTer14
XM_011531684.1:c.595_599del	XP_011529986.1:p.Glu199IlefsTer14
XM_011531685.1:c.595_599del	XP_011529987.1:p.Glu199IlefsTer14
XM_011531686.1:c.100_104del	XP_011529988.1:p.Glu34IlefsTer14
NM_172250.3:c.595_599del MANE Select	NP_758454.1:p.Glu199IlefsTer14
XM_011531684.3:c.595_599del	XP_011529986.1:p.Glu199IlefsTer14
XM_011531685.2:c.595_599del	XP_011529987.1:p.Glu199IlefsTer14
XM_011531686.2:c.100_104del	XP_011529988.1:p.Glu34IlefsTer14
NM_001375644.1:c.595_599del	NP_001362573.1:p.Glu199IlefsTer14