Canonical Allele Identifier: CA3999184

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131579104_131579109del , CM000668.2:g.131579104_131579109del GRCh38
NC_000006.11:g.131900244_131900249del , CM000668.1:g.131900244_131900249del GRCh37
NC_000006.10:g.131941937_131941942del NCBI36
NG_007086.2:g.10880_10885del
NG_031860.1:g.54120_54125del
NG_031860.2:g.54120_54125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.131-7_131-2del (ARG1) MANE Select ENSP00000357066.3:n.131-7_131-2del
ENST00000640973.1:c.131-7_131-2del (ARG1) ENSP00000492623.1:n.131-7_131-2del
ENST00000672052.1:n.378-7_378-2del (ARG1)
ENST00000672233.1:c.77-7_77-2del (ARG1) ENSP00000499826.1:n.77-7_77-2del
ENST00000673234.1:c.*18-7_*18-2del (ARG1) ENSP00000499885.1:n.*18-7_*18-2del
ENST00000673427.1:c.131-7_131-2del (ARG1) ENSP00000500160.1:n.131-7_131-2del
ENST00000275196.5:n.115-7_115-2del (ARG1)
ENST00000354577.8:c.4096-4809_4096-4804del (MED23) ENSP00000346588.4:n.4096-4809_4096-4804del
ENST00000356962.2:c.148_153del (ARG1) ENSP00000349446.2:p.Ile50_Leu51del
ENST00000368087.7:c.131-7_131-2del (ARG1) ENSP00000357066.3:n.131-7_131-2del
ENST00000469293.1:n.147-7_147-2del (ARG1)
ENST00000484820.1:n.103-7_103-2del (ARG1)
ENST00000498260.1:n.172-7_172-2del (ARG1)
NM_000045.3:c.131-7_131-2del (ARG1) NP_000036.2:n.131-7_131-2del
NM_001244438.1:c.148_153del (ARG1) NP_001231367.1:p.Ile50_Leu51del
NM_001270521.1:c.4078-4809_4078-4804del (MED23) NP_001257450.1:n.4078-4809_4078-4804del
NM_015979.3:c.4096-4809_4096-4804del (MED23) NP_057063.2:n.4096-4809_4096-4804del
XM_011535801.1:c.131-7_131-2del (ARG1) XP_011534103.1:n.131-7_131-2del
XM_011535801.2:c.131-7_131-2del (ARG1) XP_011534103.1:n.131-7_131-2del
NM_000045.4:c.131-7_131-2del (ARG1) MANE Select NP_000036.2:n.131-7_131-2del
NM_001244438.2:c.148_153del (ARG1) NP_001231367.1:p.Ile50_Leu51del
NM_001270521.2:c.4078-4809_4078-4804del (MED23) NP_001257450.1:n.4078-4809_4078-4804del
NM_001369020.1:c.131-7_131-2del (ARG1) NP_001355949.1:n.131-7_131-2del
NM_015979.4:c.4096-4809_4096-4804del (MED23) NP_057063.2:n.4096-4809_4096-4804del
NR_160934.1:n.115-7_115-2del (ARG1)