Canonical Allele Identifier: CA278562

Gene: MMAB

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561056_109561058dup , CM000674.2:g.109561056_109561058dup	GRCh38
NC_000012.11:g.109998861_109998863dup , CM000674.1:g.109998861_109998863dup	GRCh37
NC_000012.10:g.108483244_108483246dup	NCBI36
NG_007096.1:g.17444_17446dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.570_572dup MANE Select	ENSP00000445920.1:p.Arg191_Ala192insArg
ENST00000537496.5:c.*135_*137dup	ENSP00000444793.1:n.*135_*137dup
ENST00000540016.5:c.414_416dup	ENSP00000474582.1:p.Arg139_Ala140insArg
ENST00000541763.6:c.795_797dup	ENSP00000474981.1:n.795_797dup
ENST00000544051.5:c.*451_*453dup	ENSP00000438079.1:n.*451_*453dup
ENST00000545712.6:c.570_572dup	ENSP00000445920.1:p.Arg191_Ala192insArg
NM_052845.3:c.570_572dup	NP_443077.1:p.Arg191_Ala192insArg
NR_038118.1:n.730_732dup
XM_011538266.1:c.415_417dup	XP_011536568.1:p.Pro139_Gly140insPro
XM_011538267.1:c.415_417dup	XP_011536569.1:p.Pro139_Gly140insPro
XM_011538268.1:c.297_299dup	XP_011536570.1:p.Arg100_Ala101insArg
XM_011538269.1:c.294_296dup	XP_011536571.1:p.Arg99_Ala100insArg
XM_011538267.3:c.415_417dup	XP_011536569.1:p.Pro139_Gly140insPro
XM_011538268.2:c.297_299dup	XP_011536570.1:p.Arg100_Ala101insArg
XM_011538269.2:c.294_296dup	XP_011536571.1:p.Arg99_Ala100insArg
XM_024448961.1:c.570_572dup	XP_024304729.1:p.Arg191_Ala192insArg
NM_052845.4:c.570_572dup MANE Select	NP_443077.1:p.Arg191_Ala192insArg
NR_038118.2:n.681_683dup