Canonical Allele Identifier: CA645591706

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557058-AT-A
• COSMIC: COSM4613838

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557063del , CM000674.2:g.109557063del	GRCh38
NC_000012.11:g.109994868del , CM000674.1:g.109994868del	GRCh37
NC_000012.10:g.108479251del	NCBI36
NG_007096.1:g.21439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.722del MANE Select	ENSP00000445920.1:p.Asn241MetfsTer?
ENST00000537496.5:c.*287del	ENSP00000444793.1:n.*287del
ENST00000540016.5:c.566del	ENSP00000474582.1:p.Asn189MetfsTer?
ENST00000541763.6:c.947del	ENSP00000474981.1:n.947del
ENST00000544051.5:c.*603del	ENSP00000438079.1:n.*603del
ENST00000545712.6:c.722del	ENSP00000445920.1:p.Asn241MetfsTer?
NM_052845.3:c.722del	NP_443077.1:p.Asn241MetfsTer?
NR_038118.1:n.882del
XM_011538266.1:c.*69del	XP_011536568.1:n.*69del
XM_011538267.1:c.*69del	XP_011536569.1:n.*69del
XM_011538268.1:c.449del	XP_011536570.1:p.Asn150MetfsTer?
XM_011538269.1:c.446del	XP_011536571.1:p.Asn149MetfsTer?
XM_011538267.3:c.*69del	XP_011536569.1:n.*69del
XM_011538268.2:c.449del	XP_011536570.1:p.Asn150MetfsTer?
XM_011538269.2:c.446del	XP_011536571.1:p.Asn149MetfsTer?
NM_052845.4:c.722del MANE Select	NP_443077.1:p.Asn241MetfsTer?
NR_038118.2:n.833del