Canonical Allele Identifier: CA2499218095

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1075875
• ClinVar RCV Id: RCV001389574
• dbSNP Id: rs2114551021
• gnomAD v4: 6-131583757-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583758del , CM000668.2:g.131583758del	GRCh38
NC_000006.11:g.131904898del , CM000668.1:g.131904898del	GRCh37
NC_000006.10:g.131946591del	NCBI36
NG_007086.2:g.15534del
NG_031860.1:g.49466del
NG_031860.2:g.49466del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.819del (ARG1) MANE Select	ENSP00000357066.3:p.Asp274IlefsTer2
ENST00000640973.1:c.605-44del (ARG1)	ENSP00000492623.1:n.605-44del
ENST00000672233.1:c.765del (ARG1)	ENSP00000499826.1:p.Asp256IlefsTer2
ENST00000673234.1:c.*706del (ARG1)	ENSP00000499885.1:n.*706del
ENST00000673427.1:c.564del (ARG1)	ENSP00000500160.1:p.Asp189IlefsTer2
ENST00000354577.8:c.4095+3951del (MED23)	ENSP00000346588.4:n.4095+3951del
ENST00000356962.2:c.843del (ARG1)	ENSP00000349446.2:p.Asp282IlefsTer2
ENST00000368087.7:c.819del (ARG1)	ENSP00000357066.3:p.Asp274IlefsTer2
NM_000045.3:c.819del (ARG1)	NP_000036.2:p.Asp274IlefsTer2
NM_001244438.1:c.843del (ARG1)	NP_001231367.1:p.Asp282IlefsTer2
NM_001270521.1:c.4077+3951del (MED23)	NP_001257450.1:n.4077+3951del
NM_015979.3:c.4095+3951del (MED23)	NP_057063.2:n.4095+3951del
XM_011535801.1:c.564del (ARG1)	XP_011534103.1:p.Asp189IlefsTer2
XM_011535801.2:c.564del (ARG1)	XP_011534103.1:p.Asp189IlefsTer2
NM_000045.4:c.819del (ARG1) MANE Select	NP_000036.2:p.Asp274IlefsTer2
NM_001244438.2:c.843del (ARG1)	NP_001231367.1:p.Asp282IlefsTer2
NM_001270521.2:c.4077+3951del (MED23)	NP_001257450.1:n.4077+3951del
NM_001369020.1:c.564del (ARG1)	NP_001355949.1:p.Asp189IlefsTer2
NM_015979.4:c.4095+3951del (MED23)	NP_057063.2:n.4095+3951del
NR_160934.1:n.803del (ARG1)