Canonical Allele Identifier: CA2062444083

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557078_109557080delinsCTT , CM000674.2:g.109557078_109557080delinsCTT	GRCh38
NC_000012.11:g.109994883_109994885delinsCTT , CM000674.1:g.109994883_109994885delinsCTT	GRCh37
NC_000012.10:g.108479266_108479268delinsCTT	NCBI36
NG_007096.1:g.21418_21420delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.701_703delinsAAG MANE Select	ENSP00000445920.1:p.Gln234=
ENST00000537496.5:c.*266_*268delinsAAG	ENSP00000444793.1:n.*266_*268delinsAAG
ENST00000540016.5:c.545_547delinsAAG	ENSP00000474582.1:p.Gln182=
ENST00000541763.6:c.926_928delinsAAG	ENSP00000474981.1:n.926_928delinsAAG
ENST00000544051.5:c.*582_*584delinsAAG	ENSP00000438079.1:n.*582_*584delinsAAG
ENST00000545712.6:c.701_703delinsAAG	ENSP00000445920.1:p.Gln234=
NM_052845.3:c.701_703delinsAAG	NP_443077.1:p.Gln234=
NR_038118.1:n.861_863delinsAAG
XM_011538266.1:c.*48_*50delinsAAG	XP_011536568.1:n.*48_*50delinsAAG
XM_011538267.1:c.*48_*50delinsAAG	XP_011536569.1:n.*48_*50delinsAAG
XM_011538268.1:c.428_430delinsAAG	XP_011536570.1:p.Gln143=
XM_011538269.1:c.425_427delinsAAG	XP_011536571.1:p.Gln142=
XM_011538267.3:c.*48_*50delinsAAG	XP_011536569.1:n.*48_*50delinsAAG
XM_011538268.2:c.428_430delinsAAG	XP_011536570.1:p.Gln143=
XM_011538269.2:c.425_427delinsAAG	XP_011536571.1:p.Gln142=
NM_052845.4:c.701_703delinsAAG MANE Select	NP_443077.1:p.Gln234=
NR_038118.2:n.812_814delinsAAG