Canonical Allele Identifier: CA2695198355

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 2678317
• ClinVar RCV Id: RCV003471824

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583768del , CM000668.2:g.131583768del	GRCh38
NC_000006.11:g.131904908del , CM000668.1:g.131904908del	GRCh37
NC_000006.10:g.131946601del	NCBI36
NG_007086.2:g.15544del
NG_031860.1:g.49457del
NG_031860.2:g.49457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.829del (ARG1) MANE Select	ENSP00000357066.3:p.Glu277LysfsTer2
ENST00000640973.1:c.605-34del (ARG1)	ENSP00000492623.1:n.605-34del
ENST00000672233.1:c.775del (ARG1)	ENSP00000499826.1:p.Glu259LysfsTer2
ENST00000673234.1:c.*716del (ARG1)	ENSP00000499885.1:n.*716del
ENST00000673427.1:c.574del (ARG1)	ENSP00000500160.1:p.Glu192LysfsTer2
ENST00000354577.8:c.4095+3942del (MED23)	ENSP00000346588.4:n.4095+3942del
ENST00000356962.2:c.853del (ARG1)	ENSP00000349446.2:p.Glu285LysfsTer2
ENST00000368087.7:c.829del (ARG1)	ENSP00000357066.3:p.Glu277LysfsTer2
NM_000045.3:c.829del (ARG1)	NP_000036.2:p.Glu277LysfsTer2
NM_001244438.1:c.853del (ARG1)	NP_001231367.1:p.Glu285LysfsTer2
NM_001270521.1:c.4077+3942del (MED23)	NP_001257450.1:n.4077+3942del
NM_015979.3:c.4095+3942del (MED23)	NP_057063.2:n.4095+3942del
XM_011535801.1:c.574del (ARG1)	XP_011534103.1:p.Glu192LysfsTer2
XM_011535801.2:c.574del (ARG1)	XP_011534103.1:p.Glu192LysfsTer2
NM_000045.4:c.829del (ARG1) MANE Select	NP_000036.2:p.Glu277LysfsTer2
NM_001244438.2:c.853del (ARG1)	NP_001231367.1:p.Glu285LysfsTer2
NM_001270521.2:c.4077+3942del (MED23)	NP_001257450.1:n.4077+3942del
NM_001369020.1:c.574del (ARG1)	NP_001355949.1:p.Glu192LysfsTer2
NM_015979.4:c.4095+3942del (MED23)	NP_057063.2:n.4095+3942del
NR_160934.1:n.813del (ARG1)