Canonical Allele Identifier: CA2695207017

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 2910205
• ClinVar RCV Id: RCV003603830

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583816del , CM000668.2:g.131583816del	GRCh38
NC_000006.11:g.131904956del , CM000668.1:g.131904956del	GRCh37
NC_000006.10:g.131946649del	NCBI36
NG_007086.2:g.15592del
NG_031860.1:g.49408del
NG_031860.2:g.49408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.877del (ARG1) MANE Select	ENSP00000357066.3:p.Val293Ter
ENST00000640973.1:c.619del (ARG1)	ENSP00000492623.1:p.Val207Ter
ENST00000672233.1:c.823del (ARG1)	ENSP00000499826.1:p.Val275Ter
ENST00000673234.1:c.*764del (ARG1)	ENSP00000499885.1:n.*764del
ENST00000673427.1:c.622del (ARG1)	ENSP00000500160.1:p.Val208Ter
ENST00000354577.8:c.4095+3893del (MED23)	ENSP00000346588.4:n.4095+3893del
ENST00000356962.2:c.901del (ARG1)	ENSP00000349446.2:p.Val301Ter
ENST00000368087.7:c.877del (ARG1)	ENSP00000357066.3:p.Val293Ter
NM_000045.3:c.877del (ARG1)	NP_000036.2:p.Val293Ter
NM_001244438.1:c.901del (ARG1)	NP_001231367.1:p.Val301Ter
NM_001270521.1:c.4077+3893del (MED23)	NP_001257450.1:n.4077+3893del
NM_015979.3:c.4095+3893del (MED23)	NP_057063.2:n.4095+3893del
XM_011535801.1:c.622del (ARG1)	XP_011534103.1:p.Val208Ter
XM_011535801.2:c.622del (ARG1)	XP_011534103.1:p.Val208Ter
NM_000045.4:c.877del (ARG1) MANE Select	NP_000036.2:p.Val293Ter
NM_001244438.2:c.901del (ARG1)	NP_001231367.1:p.Val301Ter
NM_001270521.2:c.4077+3893del (MED23)	NP_001257450.1:n.4077+3893del
NM_001369020.1:c.622del (ARG1)	NP_001355949.1:p.Val208Ter
NM_015979.4:c.4095+3893del (MED23)	NP_057063.2:n.4095+3893del
NR_160934.1:n.861del (ARG1)