Canonical Allele Identifier: CA2499221414

Gene: MMAB

Linked Data

• ClinVar Variation Id: 1174002
• ClinVar RCV Id: RCV001527457
• dbSNP Id: rs2136192590

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557124_109557127del , CM000674.2:g.109557124_109557127del	GRCh38
NC_000012.11:g.109994929_109994932del , CM000674.1:g.109994929_109994932del	GRCh37
NC_000012.10:g.108479312_108479315del	NCBI36
NG_007096.1:g.21373_21376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.656_659del MANE Select	ENSP00000445920.1:p.Tyr219SerfsTer4
ENST00000537496.5:c.*221_*224del	ENSP00000444793.1:n.*221_*224del
ENST00000540016.5:c.500_503del	ENSP00000474582.1:p.Tyr167SerfsTer4
ENST00000541763.6:c.881_884del	ENSP00000474981.1:n.881_884del
ENST00000544051.5:c.*537_*540del	ENSP00000438079.1:n.*537_*540del
ENST00000545712.6:c.656_659del	ENSP00000445920.1:p.Tyr219SerfsTer4
NM_052845.3:c.656_659del	NP_443077.1:p.Tyr219SerfsTer4
NR_038118.1:n.816_819del
XM_011538266.1:c.*3_*6del	XP_011536568.1:n.*3_*6del
XM_011538267.1:c.*3_*6del	XP_011536569.1:n.*3_*6del
XM_011538268.1:c.383_386del	XP_011536570.1:p.Tyr128SerfsTer4
XM_011538269.1:c.380_383del	XP_011536571.1:p.Tyr127SerfsTer4
XM_011538267.3:c.*3_*6del	XP_011536569.1:n.*3_*6del
XM_011538268.2:c.383_386del	XP_011536570.1:p.Tyr128SerfsTer4
XM_011538269.2:c.380_383del	XP_011536571.1:p.Tyr127SerfsTer4
NM_052845.4:c.656_659del MANE Select	NP_443077.1:p.Tyr219SerfsTer4
NR_038118.2:n.767_770del