Canonical Allele Identifier: CA2580075101

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131579128_131579129insTTATGTAGTGCAAC , CM000668.2:g.131579128_131579129insTTATGTAGTGCAAC	GRCh38
NC_000006.11:g.131900268_131900269insTTATGTAGTGCAAC , CM000668.1:g.131900268_131900269insTTATGTAGTGCAAC	GRCh37
NC_000006.10:g.131941961_131941962insTTATGTAGTGCAAC	NCBI36
NG_007086.2:g.10904_10905insTTATGTAGTGCAAC
NG_031860.1:g.54095_54096insGTTGCACTACATAA
NG_031860.2:g.54095_54096insGTTGCACTACATAA

Transcript Alleles

HGVS	Amino-acid Change
NM_000045.4:c.148_149insTTATGTAGTGCAAC (ARG1) MANE Select	NP_000036.2:p.Tyr50PhefsTer3
ENST00000368087.8:c.148_149insTTATGTAGTGCAAC (ARG1) MANE Select	ENSP00000357066.3:p.Tyr50PhefsTer3
NM_000045.3:c.148_149insTTATGTAGTGCAAC (ARG1)	NP_000036.2:p.Tyr50PhefsTer3
NM_001244438.1:c.172_173insTTATGTAGTGCAAC (ARG1)	NP_001231367.1:p.Tyr58PhefsTer3
NM_001244438.2:c.172_173insTTATGTAGTGCAAC (ARG1)	NP_001231367.1:p.Tyr58PhefsTer3
NM_001270521.1:c.4078-4834_4078-4833insGTTGCACTACATAA (MED23)	NP_001257450.1:n.4078-4834_4078-4833insGTTGCACTACATAA
NM_001270521.2:c.4078-4834_4078-4833insGTTGCACTACATAA (MED23)	NP_001257450.1:n.4078-4834_4078-4833insGTTGCACTACATAA
NM_001369020.1:c.148_149insTTATGTAGTGCAAC (ARG1)	NP_001355949.1:p.Tyr50PhefsTer3
NM_015979.3:c.4096-4834_4096-4833insGTTGCACTACATAA (MED23)	NP_057063.2:n.4096-4834_4096-4833insGTTGCACTACATAA
NM_015979.4:c.4096-4834_4096-4833insGTTGCACTACATAA (MED23)	NP_057063.2:n.4096-4834_4096-4833insGTTGCACTACATAA
NR_160934.1:n.132_133insTTATGTAGTGCAAC (ARG1)
ENST00000275196.5:n.132_133insTTATGTAGTGCAAC (ARG1)
ENST00000354577.8:c.4096-4834_4096-4833insGTTGCACTACATAA (MED23)	ENSP00000346588.4:n.4096-4834_4096-4833insGTTGCACTACATAA
ENST00000356962.2:c.172_173insTTATGTAGTGCAAC (ARG1)	ENSP00000349446.2:p.Tyr58PhefsTer3
ENST00000368087.7:c.148_149insTTATGTAGTGCAAC (ARG1)	ENSP00000357066.3:p.Tyr50PhefsTer3
ENST00000469293.1:n.164_165insTTATGTAGTGCAAC (ARG1)
ENST00000484820.1:n.120_121insTTATGTAGTGCAAC (ARG1)
ENST00000498260.1:n.189_190insTTATGTAGTGCAAC (ARG1)
ENST00000640973.1:c.148_149insTTATGTAGTGCAAC (ARG1)	ENSP00000492623.1:p.Tyr50PhefsTer3
ENST00000672052.1:n.395_396insTTATGTAGTGCAAC (ARG1)
ENST00000672233.1:c.94_95insTTATGTAGTGCAAC (ARG1)	ENSP00000499826.1:p.Tyr32PhefsTer3
ENST00000673234.1:c.*35_*36insTTATGTAGTGCAAC (ARG1)	ENSP00000499885.1:n.*35_*36insTTATGTAGTGCAAC
ENST00000673427.1:c.148_149insTTATGTAGTGCAAC (ARG1)	ENSP00000500160.1:p.Tyr50PhefsTer3
XM_011535801.1:c.148_149insTTATGTAGTGCAAC (ARG1)	XP_011534103.1:p.Tyr50PhefsTer3
XM_011535801.2:c.148_149insTTATGTAGTGCAAC (ARG1)	XP_011534103.1:p.Tyr50PhefsTer3