Canonical Allele Identifier: CA2620810099

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557039-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557041_109557042del , CM000674.2:g.109557041_109557042del	GRCh38
NC_000012.11:g.109994846_109994847del , CM000674.1:g.109994846_109994847del	GRCh37
NC_000012.10:g.108479229_108479230del	NCBI36
NG_007096.1:g.21457_21458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.740_741del MANE Select	ENSP00000445920.1:p.Ser247Ter
ENST00000537496.5:c.*305_*306del	ENSP00000444793.1:n.*305_*306del
ENST00000540016.5:c.584_585del	ENSP00000474582.1:p.Ser195Ter
ENST00000541763.6:c.965_966del	ENSP00000474981.1:n.965_966del
ENST00000544051.5:c.*621_*622del	ENSP00000438079.1:n.*621_*622del
ENST00000545712.6:c.740_741del	ENSP00000445920.1:p.Ser247Ter
NM_052845.3:c.740_741del	NP_443077.1:p.Ser247Ter
NR_038118.1:n.900_901del
XM_011538266.1:c.*87_*88del	XP_011536568.1:n.*87_*88del
XM_011538267.1:c.*87_*88del	XP_011536569.1:n.*87_*88del
XM_011538268.1:c.467_468del	XP_011536570.1:p.Ser156Ter
XM_011538269.1:c.464_465del	XP_011536571.1:p.Ser155Ter
XM_011538267.3:c.*87_*88del	XP_011536569.1:n.*87_*88del
XM_011538268.2:c.467_468del	XP_011536570.1:p.Ser156Ter
XM_011538269.2:c.464_465del	XP_011536571.1:p.Ser155Ter
NM_052845.4:c.740_741del MANE Select	NP_443077.1:p.Ser247Ter
NR_038118.2:n.851_852del