Canonical Allele Identifier: CA2680353837

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583798-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583800del , CM000668.2:g.131583800del	GRCh38
NC_000006.11:g.131904940del , CM000668.1:g.131904940del	GRCh37
NC_000006.10:g.131946633del	NCBI36
NG_007086.2:g.15576del
NG_031860.1:g.49425del
NG_031860.2:g.49425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.861del (ARG1) MANE Select	ENSP00000357066.3:p.Glu288LysfsTer2
ENST00000640973.1:c.605-2del (ARG1)	ENSP00000492623.1:n.605-2del
ENST00000672233.1:c.807del (ARG1)	ENSP00000499826.1:p.Glu270LysfsTer2
ENST00000673234.1:c.*748del (ARG1)	ENSP00000499885.1:n.*748del
ENST00000673427.1:c.606del (ARG1)	ENSP00000500160.1:p.Glu203LysfsTer2
ENST00000354577.8:c.4095+3910del (MED23)	ENSP00000346588.4:n.4095+3910del
ENST00000356962.2:c.885del (ARG1)	ENSP00000349446.2:p.Glu296LysfsTer2
ENST00000368087.7:c.861del (ARG1)	ENSP00000357066.3:p.Glu288LysfsTer2
NM_000045.3:c.861del (ARG1)	NP_000036.2:p.Glu288LysfsTer2
NM_001244438.1:c.885del (ARG1)	NP_001231367.1:p.Glu296LysfsTer2
NM_001270521.1:c.4077+3910del (MED23)	NP_001257450.1:n.4077+3910del
NM_015979.3:c.4095+3910del (MED23)	NP_057063.2:n.4095+3910del
XM_011535801.1:c.606del (ARG1)	XP_011534103.1:p.Glu203LysfsTer2
XM_011535801.2:c.606del (ARG1)	XP_011534103.1:p.Glu203LysfsTer2
NM_000045.4:c.861del (ARG1) MANE Select	NP_000036.2:p.Glu288LysfsTer2
NM_001244438.2:c.885del (ARG1)	NP_001231367.1:p.Glu296LysfsTer2
NM_001270521.2:c.4077+3910del (MED23)	NP_001257450.1:n.4077+3910del
NM_001369020.1:c.606del (ARG1)	NP_001355949.1:p.Glu203LysfsTer2
NM_015979.4:c.4095+3910del (MED23)	NP_057063.2:n.4095+3910del
NR_160934.1:n.845del (ARG1)