Canonical Allele Identifier: CA570508538

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131579252del , CM000668.2:g.131579252del GRCh38
NC_000006.11:g.131900392del , CM000668.1:g.131900392del GRCh37
NC_000006.10:g.131942085del NCBI36
NG_007086.2:g.11028del
NG_031860.1:g.53973del
NG_031860.2:g.53973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.272del (ARG1) MANE Select ENSP00000357066.3:p.Gly91GlufsTer?
ENST00000640973.1:c.272del (ARG1) ENSP00000492623.1:p.Gly91GlufsTer?
ENST00000672052.1:n.519del (ARG1)
ENST00000672233.1:c.218del (ARG1) ENSP00000499826.1:p.Gly73GlufsTer?
ENST00000673234.1:c.*159del (ARG1) ENSP00000499885.1:n.*159del
ENST00000673427.1:c.272del (ARG1) ENSP00000500160.1:p.Gly91GlufsTer15
ENST00000275196.5:n.256del (ARG1)
ENST00000354577.8:c.4096-4956del (MED23) ENSP00000346588.4:n.4096-4956del
ENST00000356962.2:c.296del (ARG1) ENSP00000349446.2:p.Gly99GlufsTer?
ENST00000368087.7:c.272del (ARG1) ENSP00000357066.3:p.Gly91GlufsTer?
ENST00000469293.1:n.288del (ARG1)
ENST00000484820.1:n.244del (ARG1)
ENST00000498260.1:n.313del (ARG1)
NM_000045.3:c.272del (ARG1) NP_000036.2:p.Gly91GlufsTer?
NM_001244438.1:c.296del (ARG1) NP_001231367.1:p.Gly99GlufsTer?
NM_001270521.1:c.4078-4956del (MED23) NP_001257450.1:n.4078-4956del
NM_015979.3:c.4096-4956del (MED23) NP_057063.2:n.4096-4956del
XM_011535801.1:c.272del (ARG1) XP_011534103.1:p.Gly91GlufsTer15
XM_011535801.2:c.272del (ARG1) XP_011534103.1:p.Gly91GlufsTer15
NM_000045.4:c.272del (ARG1) MANE Select NP_000036.2:p.Gly91GlufsTer?
NM_001244438.2:c.296del (ARG1) NP_001231367.1:p.Gly99GlufsTer?
NM_001270521.2:c.4078-4956del (MED23) NP_001257450.1:n.4078-4956del
NM_001369020.1:c.272del (ARG1) NP_001355949.1:p.Gly91GlufsTer15
NM_015979.4:c.4096-4956del (MED23) NP_057063.2:n.4096-4956del
NR_160934.1:n.256del (ARG1)