Canonical Allele Identifier: CA147898512

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 1192408
• ClinVar RCV Id: RCV001554020 ; RCV001673199
• dbSNP Id: rs60712846
• gnomAD v2: 6-131904704-G-GA
• gnomAD v3: 6-131583564-G-GA
• gnomAD v4: 6-131583564-G-GA
• MyVariant Identifiers: chr6:g.131904704_131904705insA (hg19) ; chr6:g.131583564_131583565insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583567dup , CM000668.2:g.131583567dup	GRCh38
NC_000006.11:g.131904707dup , CM000668.1:g.131904707dup	GRCh37
NC_000006.10:g.131946400dup	NCBI36
NG_007086.2:g.15343dup
NG_031860.1:g.49659dup
NG_031860.2:g.49659dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.802+76dup (ARG1) MANE Select	ENSP00000357066.3:n.802+76dup
ENST00000640973.1:c.605-235dup (ARG1)	ENSP00000492623.1:n.605-235dup
ENST00000672233.1:c.748+76dup (ARG1)	ENSP00000499826.1:n.748+76dup
ENST00000673234.1:c.*689+76dup (ARG1)	ENSP00000499885.1:n.*689+76dup
ENST00000673427.1:c.547+76dup (ARG1)	ENSP00000500160.1:n.547+76dup
ENST00000354577.8:c.4095+4144dup (MED23)	ENSP00000346588.4:n.4095+4144dup
ENST00000356962.2:c.826+76dup (ARG1)	ENSP00000349446.2:n.826+76dup
ENST00000368087.7:c.802+76dup (ARG1)	ENSP00000357066.3:n.802+76dup
NM_000045.3:c.802+76dup (ARG1)	NP_000036.2:n.802+76dup
NM_001244438.1:c.826+76dup (ARG1)	NP_001231367.1:n.826+76dup
NM_001270521.1:c.4077+4144dup (MED23)	NP_001257450.1:n.4077+4144dup
NM_015979.3:c.4095+4144dup (MED23)	NP_057063.2:n.4095+4144dup
XM_011535801.1:c.547+76dup (ARG1)	XP_011534103.1:n.547+76dup
XM_011535801.2:c.547+76dup (ARG1)	XP_011534103.1:n.547+76dup
NM_000045.4:c.802+76dup (ARG1) MANE Select	NP_000036.2:n.802+76dup
NM_001244438.2:c.826+76dup (ARG1)	NP_001231367.1:n.826+76dup
NM_001270521.2:c.4077+4144dup (MED23)	NP_001257450.1:n.4077+4144dup
NM_001369020.1:c.547+76dup (ARG1)	NP_001355949.1:n.547+76dup
NM_015979.4:c.4095+4144dup (MED23)	NP_057063.2:n.4095+4144dup
NR_160934.1:n.786+76dup (ARG1)