Canonical Allele Identifier: CA913109530

Gene: ARG1 MED23

Linked Data

• MyVariant Identifiers: chr6:g.131905022dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583882dup , CM000668.2:g.131583882dup	GRCh38
NC_000006.11:g.131905022dup , CM000668.1:g.131905022dup	GRCh37
NC_000006.10:g.131946715dup	NCBI36
NG_007086.2:g.15658dup
NG_031860.1:g.49342dup
NG_031860.2:g.49342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.943dup (ARG1) MANE Select	ENSP00000357066.3:p.Ile315AsnfsTer2
ENST00000640973.1:c.685dup (ARG1)	ENSP00000492623.1:p.Ile229AsnfsTer2
ENST00000672233.1:c.889dup (ARG1)	ENSP00000499826.1:p.Ile297AsnfsTer2
ENST00000673234.1:c.*830dup (ARG1)	ENSP00000499885.1:n.*830dup
ENST00000673427.1:c.688dup (ARG1)	ENSP00000500160.1:p.Ile230AsnfsTer2
ENST00000354577.8:c.4095+3827dup (MED23)	ENSP00000346588.4:n.4095+3827dup
ENST00000356962.2:c.967dup (ARG1)	ENSP00000349446.2:p.Ile323AsnfsTer2
ENST00000368087.7:c.943dup (ARG1)	ENSP00000357066.3:p.Ile315AsnfsTer2
NM_000045.3:c.943dup (ARG1)	NP_000036.2:p.Ile315AsnfsTer2
NM_001244438.1:c.967dup (ARG1)	NP_001231367.1:p.Ile323AsnfsTer2
NM_001270521.1:c.4077+3827dup (MED23)	NP_001257450.1:n.4077+3827dup
NM_015979.3:c.4095+3827dup (MED23)	NP_057063.2:n.4095+3827dup
XM_011535801.1:c.688dup (ARG1)	XP_011534103.1:p.Ile230AsnfsTer2
XM_011535801.2:c.688dup (ARG1)	XP_011534103.1:p.Ile230AsnfsTer2
NM_000045.4:c.943dup (ARG1) MANE Select	NP_000036.2:p.Ile315AsnfsTer2
NM_001244438.2:c.967dup (ARG1)	NP_001231367.1:p.Ile323AsnfsTer2
NM_001270521.2:c.4077+3827dup (MED23)	NP_001257450.1:n.4077+3827dup
NM_001369020.1:c.688dup (ARG1)	NP_001355949.1:p.Ile230AsnfsTer2
NM_015979.4:c.4095+3827dup (MED23)	NP_057063.2:n.4095+3827dup
NR_160934.1:n.927dup (ARG1)