Canonical Allele Identifier: CA3999244

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 553898
• ClinVar RCV Id: RCV000669434
• dbSNP Id: rs776939220
• ExAC: 6:131902424 A / AT
• gnomAD v2: 6-131902424-A-AT
• gnomAD v4: 6-131581284-A-AT
• MyVariant Identifiers: chr6:g.131902424_131902425insT (hg19) ; chr6:g.131581285dup (hg38) ; chr6:g.131581284_131581285insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131581285dup , CM000668.2:g.131581285dup	GRCh38
NC_000006.11:g.131902425dup , CM000668.1:g.131902425dup	GRCh37
NC_000006.10:g.131944118dup	NCBI36
NG_007086.2:g.13061dup
NG_031860.1:g.51939dup
NG_031860.2:g.51939dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.372dup (ARG1) MANE Select	ENSP00000357066.3:p.Ala125CysfsTer4
ENST00000640973.1:c.372dup (ARG1)	ENSP00000492623.1:p.Ala125CysfsTer4
ENST00000672233.1:c.318dup (ARG1)	ENSP00000499826.1:p.Ala107CysfsTer4
ENST00000673234.1:c.*259dup (ARG1)	ENSP00000499885.1:n.*259dup
ENST00000673427.1:c.306-1775dup (ARG1)	ENSP00000500160.1:n.306-1775dup
ENST00000275196.5:n.356dup (ARG1)
ENST00000354577.8:c.4095+6424dup (MED23)	ENSP00000346588.4:n.4095+6424dup
ENST00000356962.2:c.396dup (ARG1)	ENSP00000349446.2:p.Ala133CysfsTer4
ENST00000368087.7:c.372dup (ARG1)	ENSP00000357066.3:p.Ala125CysfsTer4
NM_000045.3:c.372dup (ARG1)	NP_000036.2:p.Ala125CysfsTer4
NM_001244438.1:c.396dup (ARG1)	NP_001231367.1:p.Ala133CysfsTer4
NM_001270521.1:c.4077+6424dup (MED23)	NP_001257450.1:n.4077+6424dup
NM_015979.3:c.4095+6424dup (MED23)	NP_057063.2:n.4095+6424dup
XM_011535801.1:c.306-1775dup (ARG1)	XP_011534103.1:n.306-1775dup
XM_011535801.2:c.306-1775dup (ARG1)	XP_011534103.1:n.306-1775dup
NM_000045.4:c.372dup (ARG1) MANE Select	NP_000036.2:p.Ala125CysfsTer4
NM_001244438.2:c.396dup (ARG1)	NP_001231367.1:p.Ala133CysfsTer4
NM_001270521.2:c.4077+6424dup (MED23)	NP_001257450.1:n.4077+6424dup
NM_001369020.1:c.306-1775dup (ARG1)	NP_001355949.1:n.306-1775dup
NM_015979.4:c.4095+6424dup (MED23)	NP_057063.2:n.4095+6424dup
NR_160934.1:n.356dup (ARG1)