Canonical Allele Identifier: CA913191237
Gene: MAB21L1 HGNC NCBI
NBEA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.35475283del , CM000675.2:g.35475283del GRCh38
NC_000013.10:g.36049420del , CM000675.1:g.36049420del GRCh37
NC_000013.9:g.34947420del NCBI36
NG_016811.1:g.6416del
NG_028156.1:g.537997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000707125.1:c.859del (MAB21L1) ENSP00000516753.1:p.Arg287GlufsTer14
ENST00000400445.8:c.6585+2747del (NBEA) ENSP00000383295.3:n.6585+2747del
ENST00000629018.4:c.2229+2747del (NBEA) ENSP00000486239.3:n.2229+2747del
ENST00000685163.1:n.408+2747del (NBEA)
ENST00000685686.1:c.-37+2747del (NBEA) ENSP00000509879.1:n.-37+2747del
ENST00000686320.1:c.807+2747del (NBEA) ENSP00000508724.1:n.807+2747del
ENST00000686386.1:n.2503+2747del (NBEA)
ENST00000686741.1:c.-37+2747del (NBEA) ENSP00000510596.1:n.-37+2747del
ENST00000686952.1:c.-37+2747del (NBEA) ENSP00000509331.1:n.-37+2747del
ENST00000688312.1:n.857+2747del (NBEA)
ENST00000688335.1:c.-37+2747del (NBEA) ENSP00000509646.1:n.-37+2747del
ENST00000688363.1:c.4335+2747del (NBEA) ENSP00000510178.1:n.4335+2747del
ENST00000688422.1:c.-163+2747del (NBEA) ENSP00000509488.1:n.-163+2747del
ENST00000688626.1:c.4431+2747del (NBEA) ENSP00000509239.1:n.4431+2747del
ENST00000689207.1:n.2875+2747del (NBEA)
ENST00000689454.1:c.-37+2747del (NBEA) ENSP00000509389.1:n.-37+2747del
ENST00000689568.1:n.546del (NBEA)
ENST00000691097.1:n.1295+2747del (NBEA)
ENST00000691561.1:c.-37+2747del (NBEA) ENSP00000510517.1:n.-37+2747del
ENST00000692737.1:n.1531+2747del (NBEA)
ENST00000693262.1:c.-159+2747del (NBEA) ENSP00000509811.1:n.-159+2747del
ENST00000379919.6:c.859del (MAB21L1) MANE Select ENSP00000369251.4:p.Arg287GlufsTer14
ENST00000379939.7:c.6585+2747del (NBEA) MANE Select ENSP00000369271.2:n.6585+2747del
ENST00000629018.3:c.2449+2747del (NBEA)
ENST00000310336.8:c.6588+2747del (NBEA) ENSP00000308534.5:n.6588+2747del
ENST00000379919.5:c.859del (MAB21L1) ENSP00000369251.4:p.Arg287GlufsTer14
ENST00000379939.6:c.6576+2747del (NBEA) ENSP00000369271.1:n.6576+2747del
ENST00000400445.7:c.6585+2747del (NBEA) ENSP00000383295.3:n.6585+2747del
ENST00000629018.2:c.6585+2747del (NBEA) ENSP00000486239.1:n.6585+2747del
NM_005584.4:c.859del (MAB21L1) NP_005575.1:p.Arg287GlufsTer14
NM_015678.4:c.6585+2747del (NBEA) NP_056493.3:n.6585+2747del
XM_005266346.3:c.6585+2747del (NBEA) XP_005266403.1:n.6585+2747del
XM_005266347.3:c.6585+2747del (NBEA) XP_005266404.2:n.6585+2747del
XM_005266348.3:c.6576+2747del (NBEA) XP_005266405.2:n.6576+2747del
XM_005266350.2:c.5607+2747del (NBEA) XP_005266407.1:n.5607+2747del
XM_006719803.2:c.6585+2747del (NBEA) XP_006719866.1:n.6585+2747del
XM_006719805.2:c.6576+2747del (NBEA) XP_006719868.1:n.6576+2747del
XM_006719806.2:c.6576+2747del (NBEA) XP_006719869.1:n.6576+2747del
XM_011535045.1:c.6585+2747del (NBEA) XP_011533347.1:n.6585+2747del
XM_011535046.1:c.5148+2747del (NBEA) XP_011533348.1:n.5148+2747del
XM_011535047.1:c.6585+2747del (NBEA) XP_011533349.1:n.6585+2747del
XM_005266346.4:c.6585+2747del (NBEA) XP_005266403.1:n.6585+2747del
XM_005266347.4:c.6585+2747del (NBEA) XP_005266404.2:n.6585+2747del
XM_005266348.4:c.6576+2747del (NBEA) XP_005266405.2:n.6576+2747del
XM_006719803.3:c.6585+2747del (NBEA) XP_006719866.1:n.6585+2747del
XM_006719805.3:c.6576+2747del (NBEA) XP_006719868.1:n.6576+2747del
XM_006719806.3:c.6576+2747del (NBEA) XP_006719869.1:n.6576+2747del
XM_011535046.2:c.5148+2747del (NBEA) XP_011533348.1:n.5148+2747del
XM_011535047.2:c.6585+2747del (NBEA) XP_011533349.1:n.6585+2747del
XM_017020544.1:c.6567+2747del (NBEA) XP_016876033.1:n.6567+2747del
XM_017020545.1:c.6567+2747del (NBEA) XP_016876034.1:n.6567+2747del
XM_017020546.1:c.6264+2747del (NBEA) XP_016876035.1:n.6264+2747del
XM_024449338.1:c.5199+2747del (NBEA) XP_024305106.1:n.5199+2747del
NM_005584.5:c.859del (MAB21L1) MANE Select NP_005575.1:p.Arg287GlufsTer14
NM_015678.5:c.6585+2747del (NBEA) NP_056493.3:n.6585+2747del
NM_001379245.1:c.6576+2747del (NBEA) NP_001366174.1:n.6576+2747del
NM_001385012.1:c.6585+2747del (NBEA) MANE Select NP_001371941.1:n.6585+2747del