Canonical Allele Identifier: CA2797414256

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557060_109557070del , CM000674.2:g.109557060_109557070del	GRCh38
NC_000012.11:g.109994865_109994875del , CM000674.1:g.109994865_109994875del	GRCh37
NC_000012.10:g.108479248_108479258del	NCBI36
NG_007096.1:g.21430_21440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.713_723del MANE Select	ENSP00000445920.1:p.Tyr238Ter
ENST00000537496.5:c.*278_*288del	ENSP00000444793.1:n.*278_*288del
ENST00000540016.5:c.557_567del	ENSP00000474582.1:p.Tyr186Ter
ENST00000541763.6:c.938_948del	ENSP00000474981.1:n.938_948del
ENST00000544051.5:c.*594_*604del	ENSP00000438079.1:n.*594_*604del
ENST00000545712.6:c.713_723del	ENSP00000445920.1:p.Tyr238Ter
NM_052845.3:c.713_723del	NP_443077.1:p.Tyr238Ter
NR_038118.1:n.873_883del
XM_011538266.1:c.*60_*70del	XP_011536568.1:n.*60_*70del
XM_011538267.1:c.*60_*70del	XP_011536569.1:n.*60_*70del
XM_011538268.1:c.440_450del	XP_011536570.1:p.Tyr147Ter
XM_011538269.1:c.437_447del	XP_011536571.1:p.Tyr146Ter
XM_011538267.3:c.*60_*70del	XP_011536569.1:n.*60_*70del
XM_011538268.2:c.440_450del	XP_011536570.1:p.Tyr147Ter
XM_011538269.2:c.437_447del	XP_011536571.1:p.Tyr146Ter
NM_052845.4:c.713_723del MANE Select	NP_443077.1:p.Tyr238Ter
NR_038118.2:n.824_834del