Canonical Allele Identifier: CA2062444062
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557067_109557068delinsGT , CM000674.2:g.109557067_109557068delinsGT GRCh38
NC_000012.11:g.109994872_109994873delinsGT , CM000674.1:g.109994872_109994873delinsGT GRCh37
NC_000012.10:g.108479255_108479256delinsGT NCBI36
NG_007096.1:g.21430_21431delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.713_714delinsAC MANE Select ENSP00000445920.1:p.Tyr238=
ENST00000537496.5:c.*278_*279delinsAC ENSP00000444793.1:n.*278_*279delinsAC
ENST00000540016.5:c.557_558delinsAC ENSP00000474582.1:p.Tyr186=
ENST00000541763.6:c.938_939delinsAC ENSP00000474981.1:n.938_939delinsAC
ENST00000544051.5:c.*594_*595delinsAC ENSP00000438079.1:n.*594_*595delinsAC
ENST00000545712.6:c.713_714delinsAC ENSP00000445920.1:p.Tyr238=
NM_052845.3:c.713_714delinsAC NP_443077.1:p.Tyr238=
NR_038118.1:n.873_874delinsAC
XM_011538266.1:c.*60_*61delinsAC XP_011536568.1:n.*60_*61delinsAC
XM_011538267.1:c.*60_*61delinsAC XP_011536569.1:n.*60_*61delinsAC
XM_011538268.1:c.440_441delinsAC XP_011536570.1:p.Tyr147=
XM_011538269.1:c.437_438delinsAC XP_011536571.1:p.Tyr146=
XM_011538267.3:c.*60_*61delinsAC XP_011536569.1:n.*60_*61delinsAC
XM_011538268.2:c.440_441delinsAC XP_011536570.1:p.Tyr147=
XM_011538269.2:c.437_438delinsAC XP_011536571.1:p.Tyr146=
NM_052845.4:c.713_714delinsAC MANE Select NP_443077.1:p.Tyr238=
NR_038118.2:n.824_825delinsAC