Canonical Allele Identifier: CA891843061

Gene: MMAA

Linked Data

• ClinVar Variation Id: 570176
• ClinVar RCV Id: RCV000690978
• dbSNP Id: rs1560795828
• MyVariant Identifiers: chr4:g.146560430_146560431del (hg19) ; chr4:g.145639278_145639279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639278_145639279del , CM000666.2:g.145639278_145639279del	GRCh38
NC_000004.11:g.146560430_146560431del , CM000666.1:g.146560430_146560431del	GRCh37
NC_000004.10:g.146779880_146779881del	NCBI36
NG_007536.1:g.24981_24982del
NG_007536.2:g.45237_45238del

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.139_140del	ENSP00000442284.3:p.Leu47TrpfsTer?
ENST00000647947.1:c.139_140del	ENSP00000496781.1:p.Leu47TrpfsTer?
ENST00000648388.1:c.139_140del	ENSP00000497046.1:p.Leu47TrpfsTer?
ENST00000649156.2:c.139_140del MANE Select	ENSP00000497008.1:p.Leu47TrpfsTer?
ENST00000649173.1:c.139_140del	ENSP00000497871.1:p.Leu47TrpfsTer?
ENST00000649704.1:c.139_140del	ENSP00000497680.1:p.Leu47TrpfsTer?
ENST00000679563.1:c.139_140del	ENSP00000506503.1:p.Leu47TrpfsTer?
ENST00000679930.1:c.139_140del	ENSP00000506293.1:p.Leu47TrpfsTer?
ENST00000281317.9:c.139_140del	ENSP00000281317.5:p.Leu47TrpfsTer?
ENST00000506919.1:n.627_628del
ENST00000511969.4:c.139_140del	ENSP00000427422.1:p.Leu47TrpfsTer?
ENST00000541599.4:c.139_140del	ENSP00000442284.2:p.Leu47TrpfsTer?
NM_172250.2:c.139_140del	NP_758454.1:p.Leu47TrpfsTer?
XM_011531684.1:c.139_140del	XP_011529986.1:p.Leu47TrpfsTer?
XM_011531685.1:c.139_140del	XP_011529987.1:p.Leu47TrpfsTer?
NM_172250.3:c.139_140del MANE Select	NP_758454.1:p.Leu47TrpfsTer?
XM_011531684.3:c.139_140del	XP_011529986.1:p.Leu47TrpfsTer?
XM_011531685.2:c.139_140del	XP_011529987.1:p.Leu47TrpfsTer?
XM_011531686.2:c.-645_-644del	XP_011529988.1:n.-645_-644del
NM_001375644.1:c.139_140del	NP_001362573.1:p.Leu47TrpfsTer?