Canonical Allele Identifier: CA2580614549

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2503845
• ClinVar RCV Id: RCV003230836

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557063_109557065delinsACT , CM000674.2:g.109557063_109557065delinsACT	GRCh38
NC_000012.11:g.109994868_109994870delinsACT , CM000674.1:g.109994868_109994870delinsACT	GRCh37
NC_000012.10:g.108479251_108479253delinsACT	NCBI36
NG_007096.1:g.21433_21435delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.716_718delinsAGT MANE Select	ENSP00000445920.1:p.Met239LysfsTer2
ENST00000537496.5:c.*281_*283delinsAGT	ENSP00000444793.1:n.*281_*283delinsAGT
ENST00000540016.5:c.560_562delinsAGT	ENSP00000474582.1:p.Met187LysfsTer2
ENST00000541763.6:c.941_943delinsAGT	ENSP00000474981.1:n.941_943delinsAGT
ENST00000544051.5:c.*597_*599delinsAGT	ENSP00000438079.1:n.*597_*599delinsAGT
ENST00000545712.6:c.716_718delinsAGT	ENSP00000445920.1:p.Met239LysfsTer2
NM_052845.3:c.716_718delinsAGT	NP_443077.1:p.Met239LysfsTer2
NR_038118.1:n.876_878delinsAGT
XM_011538266.1:c.*63_*65delinsAGT	XP_011536568.1:n.*63_*65delinsAGT
XM_011538267.1:c.*63_*65delinsAGT	XP_011536569.1:n.*63_*65delinsAGT
XM_011538268.1:c.443_445delinsAGT	XP_011536570.1:p.Met148LysfsTer2
XM_011538269.1:c.440_442delinsAGT	XP_011536571.1:p.Met147LysfsTer2
XM_011538267.3:c.*63_*65delinsAGT	XP_011536569.1:n.*63_*65delinsAGT
XM_011538268.2:c.443_445delinsAGT	XP_011536570.1:p.Met148LysfsTer2
XM_011538269.2:c.440_442delinsAGT	XP_011536571.1:p.Met147LysfsTer2
NM_052845.4:c.716_718delinsAGT MANE Select	NP_443077.1:p.Met239LysfsTer2
NR_038118.2:n.827_829delinsAGT