Canonical Allele Identifier: CA312311

Gene: ARG1 MED23

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.272dup (ARG1) MANE Select	ENSP00000357066.3:p.Arg92LysfsTer26
ENST00000640973.1:c.272dup (ARG1)	ENSP00000492623.1:p.Arg92LysfsTer26
ENST00000672052.1:n.519dup (ARG1)
ENST00000672233.1:c.218dup (ARG1)	ENSP00000499826.1:p.Arg74LysfsTer26
ENST00000673234.1:c.*159dup (ARG1)	ENSP00000499885.1:n.*159dup
ENST00000673427.1:c.272dup (ARG1)	ENSP00000500160.1:p.Arg92LysfsTer20
ENST00000275196.5:n.256dup (ARG1)
ENST00000354577.8:c.4096-4956dup (MED23)	ENSP00000346588.4:n.4096-4956dup
ENST00000356962.2:c.296dup (ARG1)	ENSP00000349446.2:p.Arg100LysfsTer26
ENST00000368087.7:c.272dup (ARG1)	ENSP00000357066.3:p.Arg92LysfsTer26
ENST00000469293.1:n.288dup (ARG1)
ENST00000484820.1:n.244dup (ARG1)
ENST00000498260.1:n.313dup (ARG1)
NM_000045.3:c.272dup (ARG1)	NP_000036.2:p.Arg92LysfsTer26
NM_001244438.1:c.296dup (ARG1)	NP_001231367.1:p.Arg100LysfsTer26
NM_001270521.1:c.4078-4956dup (MED23)	NP_001257450.1:n.4078-4956dup
NM_015979.3:c.4096-4956dup (MED23)	NP_057063.2:n.4096-4956dup
XM_011535801.1:c.272dup (ARG1)	XP_011534103.1:p.Arg92LysfsTer20
XM_011535801.2:c.272dup (ARG1)	XP_011534103.1:p.Arg92LysfsTer20
NM_000045.4:c.272dup (ARG1) MANE Select	NP_000036.2:p.Arg92LysfsTer26
NM_001244438.2:c.296dup (ARG1)	NP_001231367.1:p.Arg100LysfsTer26
NM_001270521.2:c.4078-4956dup (MED23)	NP_001257450.1:n.4078-4956dup
NM_001369020.1:c.272dup (ARG1)	NP_001355949.1:p.Arg92LysfsTer20
NM_015979.4:c.4096-4956dup (MED23)	NP_057063.2:n.4096-4956dup
NR_160934.1:n.256dup (ARG1)