Canonical Allele Identifier: CA658821323

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131579102dup , CM000668.2:g.131579102dup GRCh38
NC_000006.11:g.131900242dup , CM000668.1:g.131900242dup GRCh37
NC_000006.10:g.131941935dup NCBI36
NG_007086.2:g.10878dup
NG_031860.1:g.54126dup
NG_031860.2:g.54126dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.131-9dup (ARG1) MANE Select ENSP00000357066.3:n.131-9dup
ENST00000640973.1:c.131-9dup (ARG1) ENSP00000492623.1:n.131-9dup
ENST00000672052.1:n.378-9dup (ARG1)
ENST00000672233.1:c.77-9dup (ARG1) ENSP00000499826.1:n.77-9dup
ENST00000673234.1:c.*18-9dup (ARG1) ENSP00000499885.1:n.*18-9dup
ENST00000673427.1:c.131-9dup (ARG1) ENSP00000500160.1:n.131-9dup
ENST00000275196.5:n.115-9dup (ARG1)
ENST00000354577.8:c.4096-4803dup (MED23) ENSP00000346588.4:n.4096-4803dup
ENST00000356962.2:c.146dup (ARG1) ENSP00000349446.2:p.Leu49PhefsTer6
ENST00000368087.7:c.131-9dup (ARG1) ENSP00000357066.3:n.131-9dup
ENST00000469293.1:n.147-9dup (ARG1)
ENST00000484820.1:n.103-9dup (ARG1)
ENST00000498260.1:n.172-9dup (ARG1)
NM_000045.3:c.131-9dup (ARG1) NP_000036.2:n.131-9dup
NM_001244438.1:c.146dup (ARG1) NP_001231367.1:p.Leu49PhefsTer6
NM_001270521.1:c.4078-4803dup (MED23) NP_001257450.1:n.4078-4803dup
NM_015979.3:c.4096-4803dup (MED23) NP_057063.2:n.4096-4803dup
XM_011535801.1:c.131-9dup (ARG1) XP_011534103.1:n.131-9dup
XM_011535801.2:c.131-9dup (ARG1) XP_011534103.1:n.131-9dup
NM_000045.4:c.131-9dup (ARG1) MANE Select NP_000036.2:n.131-9dup
NM_001244438.2:c.146dup (ARG1) NP_001231367.1:p.Leu49PhefsTer6
NM_001270521.2:c.4078-4803dup (MED23) NP_001257450.1:n.4078-4803dup
NM_001369020.1:c.131-9dup (ARG1) NP_001355949.1:n.131-9dup
NM_015979.4:c.4096-4803dup (MED23) NP_057063.2:n.4096-4803dup
NR_160934.1:n.115-9dup (ARG1)