Canonical Allele Identifier: CA2580616781

Gene: MMAA

Linked Data

• ClinVar Variation Id: 2506383
• ClinVar RCV Id: RCV003234970

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639421_145639426del , CM000666.2:g.145639421_145639426del	GRCh38
NC_000004.11:g.146560573_146560578del , CM000666.1:g.146560573_146560578del	GRCh37
NC_000004.10:g.146780023_146780028del	NCBI36
NG_007536.1:g.25124_25129del
NG_007536.2:g.45380_45385del

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.282_287del	ENSP00000442284.3:p.Ile94_Gly96delinsMet
ENST00000647947.1:c.282_287del	ENSP00000496781.1:p.Ile94_Gly96delinsMet
ENST00000648388.1:c.282_287del	ENSP00000497046.1:p.Ile94_Gly96delinsMet
ENST00000649156.2:c.282_287del MANE Select	ENSP00000497008.1:p.Ile94_Gly96delinsMet
ENST00000649173.1:c.282_287del	ENSP00000497871.1:p.Ile94_Gly96delinsMet
ENST00000649704.1:c.282_287del	ENSP00000497680.1:p.Ile94_Gly96delinsMet
ENST00000679563.1:c.282_287del	ENSP00000506503.1:p.Ile94_Gly96delinsMet
ENST00000679930.1:c.282_287del	ENSP00000506293.1:p.Ile94_Gly96delinsMet
ENST00000281317.9:c.282_287del	ENSP00000281317.5:p.Ile94_Gly96delinsMet
ENST00000506919.1:n.770_775del
ENST00000511969.4:c.282_287del	ENSP00000427422.1:p.Ile94_Gly96delinsMet
ENST00000541599.4:c.282_287del	ENSP00000442284.2:p.Ile94_Gly96delinsMet
NM_172250.2:c.282_287del	NP_758454.1:p.Ile94_Gly96delinsMet
XM_011531684.1:c.282_287del	XP_011529986.1:p.Ile94_Gly96delinsMet
XM_011531685.1:c.282_287del	XP_011529987.1:p.Ile94_Gly96delinsMet
NM_172250.3:c.282_287del MANE Select	NP_758454.1:p.Ile94_Gly96delinsMet
XM_011531684.3:c.282_287del	XP_011529986.1:p.Ile94_Gly96delinsMet
XM_011531685.2:c.282_287del	XP_011529987.1:p.Ile94_Gly96delinsMet
XM_011531686.2:c.-502_-497del	XP_011529988.1:n.-502_-497del
NM_001375644.1:c.282_287del	NP_001362573.1:p.Ile94_Gly96delinsMet