Canonical Allele Identifier: CA2580071567

Gene: MMAA

Linked Data

• ClinVar Variation Id: 2057282
• ClinVar RCV Id: RCV002914821

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639323_145639324del , CM000666.2:g.145639323_145639324del	GRCh38
NC_000004.11:g.146560475_146560476del , CM000666.1:g.146560475_146560476del	GRCh37
NC_000004.10:g.146779925_146779926del	NCBI36
NG_007536.1:g.25026_25027del
NG_007536.2:g.45282_45283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.184_185del	ENSP00000442284.3:p.Lys62GlufsTer18
ENST00000647947.1:c.184_185del	ENSP00000496781.1:p.Lys62GlufsTer18
ENST00000648388.1:c.184_185del	ENSP00000497046.1:p.Lys62GlufsTer18
ENST00000649156.2:c.184_185del MANE Select	ENSP00000497008.1:p.Lys62GlufsTer18
ENST00000649173.1:c.184_185del	ENSP00000497871.1:p.Lys62GlufsTer18
ENST00000649704.1:c.184_185del	ENSP00000497680.1:p.Lys62GlufsTer18
ENST00000679563.1:c.184_185del	ENSP00000506503.1:p.Lys62GlufsTer18
ENST00000679930.1:c.184_185del	ENSP00000506293.1:p.Lys62GlufsTer18
ENST00000281317.9:c.184_185del	ENSP00000281317.5:p.Lys62GlufsTer18
ENST00000506919.1:n.672_673del
ENST00000511969.4:c.184_185del	ENSP00000427422.1:p.Lys62GlufsTer18
ENST00000541599.4:c.184_185del	ENSP00000442284.2:p.Lys62GlufsTer18
NM_172250.2:c.184_185del	NP_758454.1:p.Lys62GlufsTer18
XM_011531684.1:c.184_185del	XP_011529986.1:p.Lys62GlufsTer18
XM_011531685.1:c.184_185del	XP_011529987.1:p.Lys62GlufsTer18
NM_172250.3:c.184_185del MANE Select	NP_758454.1:p.Lys62GlufsTer18
XM_011531684.3:c.184_185del	XP_011529986.1:p.Lys62GlufsTer18
XM_011531685.2:c.184_185del	XP_011529987.1:p.Lys62GlufsTer18
XM_011531686.2:c.-600_-599del	XP_011529988.1:n.-600_-599del
NM_001375644.1:c.184_185del	NP_001362573.1:p.Lys62GlufsTer18