Canonical Allele Identifier: CA1664137972

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583875_131583876delinsCA , CM000668.2:g.131583875_131583876delinsCA	GRCh38
NC_000006.11:g.131905015_131905016delinsCA , CM000668.1:g.131905015_131905016delinsCA	GRCh37
NC_000006.10:g.131946708_131946709delinsCA	NCBI36
NG_007086.2:g.15651_15652delinsCA
NG_031860.1:g.49348_49349delinsTG
NG_031860.2:g.49348_49349delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.936_937delinsCA (ARG1) MANE Select	ENSP00000357066.3:p.His312=
ENST00000640973.1:c.678_679delinsCA (ARG1)	ENSP00000492623.1:p.His226=
ENST00000672233.1:c.882_883delinsCA (ARG1)	ENSP00000499826.1:p.His294=
ENST00000673234.1:c.*823_*824delinsCA (ARG1)	ENSP00000499885.1:n.*823_*824delinsCA
ENST00000673427.1:c.681_682delinsCA (ARG1)	ENSP00000500160.1:p.His227=
ENST00000354577.8:c.4095+3833_4095+3834delinsTG (MED23)	ENSP00000346588.4:n.4095+3833_4095+3834delinsTG
ENST00000356962.2:c.960_961delinsCA (ARG1)	ENSP00000349446.2:p.His320=
ENST00000368087.7:c.936_937delinsCA (ARG1)	ENSP00000357066.3:p.His312=
NM_000045.3:c.936_937delinsCA (ARG1)	NP_000036.2:p.His312=
NM_001244438.1:c.960_961delinsCA (ARG1)	NP_001231367.1:p.His320=
NM_001270521.1:c.4077+3833_4077+3834delinsTG (MED23)	NP_001257450.1:n.4077+3833_4077+3834delinsTG
NM_015979.3:c.4095+3833_4095+3834delinsTG (MED23)	NP_057063.2:n.4095+3833_4095+3834delinsTG
XM_011535801.1:c.681_682delinsCA (ARG1)	XP_011534103.1:p.His227=
XM_011535801.2:c.681_682delinsCA (ARG1)	XP_011534103.1:p.His227=
NM_000045.4:c.936_937delinsCA (ARG1) MANE Select	NP_000036.2:p.His312=
NM_001244438.2:c.960_961delinsCA (ARG1)	NP_001231367.1:p.His320=
NM_001270521.2:c.4077+3833_4077+3834delinsTG (MED23)	NP_001257450.1:n.4077+3833_4077+3834delinsTG
NM_001369020.1:c.681_682delinsCA (ARG1)	NP_001355949.1:p.His227=
NM_015979.4:c.4095+3833_4095+3834delinsTG (MED23)	NP_057063.2:n.4095+3833_4095+3834delinsTG
NR_160934.1:n.920_921delinsCA (ARG1)