Canonical Allele Identifier: CA2062448178

Gene: MMAB

Linked Data

• dbSNP Id: rs1884178601

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561066_109561070dup , CM000674.2:g.109561066_109561070dup	GRCh38
NC_000012.11:g.109998871_109998875dup , CM000674.1:g.109998871_109998875dup	GRCh37
NC_000012.10:g.108483254_108483258dup	NCBI36
NG_007096.1:g.17432_17436dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.558_562dup MANE Select	ENSP00000445920.1:p.Val188GlyfsTer28
ENST00000537496.5:c.*123_*127dup	ENSP00000444793.1:n.*123_*127dup
ENST00000540016.5:c.402_406dup	ENSP00000474582.1:p.Val136GlyfsTer28
ENST00000541763.6:c.783_787dup	ENSP00000474981.1:n.783_787dup
ENST00000544051.5:c.*439_*443dup	ENSP00000438079.1:n.*439_*443dup
ENST00000545712.6:c.558_562dup	ENSP00000445920.1:p.Val188GlyfsTer28
NM_052845.3:c.558_562dup	NP_443077.1:p.Val188GlyfsTer28
NR_038118.1:n.718_722dup
XM_011538266.1:c.403_407dup	XP_011536568.1:p.Val137AlafsTer?
XM_011538267.1:c.403_407dup	XP_011536569.1:p.Val137AlafsTer?
XM_011538268.1:c.285_289dup	XP_011536570.1:p.Val97GlyfsTer28
XM_011538269.1:c.282_286dup	XP_011536571.1:p.Val96GlyfsTer28
XM_011538267.3:c.403_407dup	XP_011536569.1:p.Val137AlafsTer?
XM_011538268.2:c.285_289dup	XP_011536570.1:p.Val97GlyfsTer28
XM_011538269.2:c.282_286dup	XP_011536571.1:p.Val96GlyfsTer28
XM_024448961.1:c.558_562dup	XP_024304729.1:p.Val188GlyfsTer28
NM_052845.4:c.558_562dup MANE Select	NP_443077.1:p.Val188GlyfsTer28
NR_038118.2:n.669_673dup