Canonical Allele Identifier: CA2680353694

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583616-A-ATAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583620_131583623dup , CM000668.2:g.131583620_131583623dup	GRCh38
NC_000006.11:g.131904760_131904763dup , CM000668.1:g.131904760_131904763dup	GRCh37
NC_000006.10:g.131946453_131946456dup	NCBI36
NG_007086.2:g.15396_15399dup
NG_031860.1:g.49604_49607dup
NG_031860.2:g.49604_49607dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.803-122_803-119dup (ARG1) MANE Select	ENSP00000357066.3:n.803-122_803-119dup
ENST00000640973.1:c.605-182_605-179dup (ARG1)	ENSP00000492623.1:n.605-182_605-179dup
ENST00000672233.1:c.749-122_749-119dup (ARG1)	ENSP00000499826.1:n.749-122_749-119dup
ENST00000673234.1:c.*690-122_*690-119dup (ARG1)	ENSP00000499885.1:n.*690-122_*690-119dup
ENST00000673427.1:c.548-122_548-119dup (ARG1)	ENSP00000500160.1:n.548-122_548-119dup
ENST00000354577.8:c.4095+4089_4095+4092dup (MED23)	ENSP00000346588.4:n.4095+4089_4095+4092dup
ENST00000356962.2:c.827-122_827-119dup (ARG1)	ENSP00000349446.2:n.827-122_827-119dup
ENST00000368087.7:c.803-122_803-119dup (ARG1)	ENSP00000357066.3:n.803-122_803-119dup
NM_000045.3:c.803-122_803-119dup (ARG1)	NP_000036.2:n.803-122_803-119dup
NM_001244438.1:c.827-122_827-119dup (ARG1)	NP_001231367.1:n.827-122_827-119dup
NM_001270521.1:c.4077+4089_4077+4092dup (MED23)	NP_001257450.1:n.4077+4089_4077+4092dup
NM_015979.3:c.4095+4089_4095+4092dup (MED23)	NP_057063.2:n.4095+4089_4095+4092dup
XM_011535801.1:c.548-122_548-119dup (ARG1)	XP_011534103.1:n.548-122_548-119dup
XM_011535801.2:c.548-122_548-119dup (ARG1)	XP_011534103.1:n.548-122_548-119dup
NM_000045.4:c.803-122_803-119dup (ARG1) MANE Select	NP_000036.2:n.803-122_803-119dup
NM_001244438.2:c.827-122_827-119dup (ARG1)	NP_001231367.1:n.827-122_827-119dup
NM_001270521.2:c.4077+4089_4077+4092dup (MED23)	NP_001257450.1:n.4077+4089_4077+4092dup
NM_001369020.1:c.548-122_548-119dup (ARG1)	NP_001355949.1:n.548-122_548-119dup
NM_015979.4:c.4095+4089_4095+4092dup (MED23)	NP_057063.2:n.4095+4089_4095+4092dup
NR_160934.1:n.787-122_787-119dup (ARG1)