Canonical Allele Identifier: CA2680352538

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131581523-G-GTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131581525_131581528dup , CM000668.2:g.131581525_131581528dup	GRCh38
NC_000006.11:g.131902665_131902668dup , CM000668.1:g.131902665_131902668dup	GRCh37
NC_000006.10:g.131944358_131944361dup	NCBI36
NG_007086.2:g.13301_13304dup
NG_031860.1:g.51697_51700dup
NG_031860.2:g.51697_51700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.465+147_465+150dup (ARG1) MANE Select	ENSP00000357066.3:n.465+147_465+150dup
ENST00000640973.1:c.465+147_465+150dup (ARG1)	ENSP00000492623.1:n.465+147_465+150dup
ENST00000672233.1:c.411+147_411+150dup (ARG1)	ENSP00000499826.1:n.411+147_411+150dup
ENST00000673234.1:c.*352+147_*352+150dup (ARG1)	ENSP00000499885.1:n.*352+147_*352+150dup
ENST00000673427.1:c.306-1535_306-1532dup (ARG1)	ENSP00000500160.1:n.306-1535_306-1532dup
ENST00000275196.5:n.449+147_449+150dup (ARG1)
ENST00000354577.8:c.4095+6182_4095+6185dup (MED23)	ENSP00000346588.4:n.4095+6182_4095+6185dup
ENST00000356962.2:c.489+147_489+150dup (ARG1)	ENSP00000349446.2:n.489+147_489+150dup
ENST00000368087.7:c.465+147_465+150dup (ARG1)	ENSP00000357066.3:n.465+147_465+150dup
NM_000045.3:c.465+147_465+150dup (ARG1)	NP_000036.2:n.465+147_465+150dup
NM_001244438.1:c.489+147_489+150dup (ARG1)	NP_001231367.1:n.489+147_489+150dup
NM_001270521.1:c.4077+6182_4077+6185dup (MED23)	NP_001257450.1:n.4077+6182_4077+6185dup
NM_015979.3:c.4095+6182_4095+6185dup (MED23)	NP_057063.2:n.4095+6182_4095+6185dup
XM_011535801.1:c.306-1535_306-1532dup (ARG1)	XP_011534103.1:n.306-1535_306-1532dup
XM_011535801.2:c.306-1535_306-1532dup (ARG1)	XP_011534103.1:n.306-1535_306-1532dup
NM_000045.4:c.465+147_465+150dup (ARG1) MANE Select	NP_000036.2:n.465+147_465+150dup
NM_001244438.2:c.489+147_489+150dup (ARG1)	NP_001231367.1:n.489+147_489+150dup
NM_001270521.2:c.4077+6182_4077+6185dup (MED23)	NP_001257450.1:n.4077+6182_4077+6185dup
NM_001369020.1:c.306-1535_306-1532dup (ARG1)	NP_001355949.1:n.306-1535_306-1532dup
NM_015979.4:c.4095+6182_4095+6185dup (MED23)	NP_057063.2:n.4095+6182_4095+6185dup
NR_160934.1:n.449+147_449+150dup (ARG1)