Canonical Allele Identifier: CA570508601

Gene: ARG1 MED23

Linked Data

• ClinVar Variation Id: 459925
• ClinVar RCV Id: RCV000556422
• dbSNP Id: rs1554251356
• gnomAD v2: 6-131905015-CA-C
• gnomAD v3: 6-131583875-CA-C
• gnomAD v4: 6-131583875-CA-C
• MyVariant Identifiers: chr6:g.131905017del (hg19) ; chr6:g.131905016del (hg19) ; chr6:g.131583877del (hg38) ; chr6:g.131583876del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583877del , CM000668.2:g.131583877del	GRCh38
NC_000006.11:g.131905017del , CM000668.1:g.131905017del	GRCh37
NC_000006.10:g.131946710del	NCBI36
NG_007086.2:g.15653del
NG_031860.1:g.49348del
NG_031860.2:g.49348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.938del (ARG1) MANE Select	ENSP00000357066.3:p.Lys313SerfsTer22
ENST00000640973.1:c.680del (ARG1)	ENSP00000492623.1:p.Lys227SerfsTer?
ENST00000672233.1:c.884del (ARG1)	ENSP00000499826.1:p.Lys295SerfsTer22
ENST00000673234.1:c.*825del (ARG1)	ENSP00000499885.1:n.*825del
ENST00000673427.1:c.683del (ARG1)	ENSP00000500160.1:p.Lys228SerfsTer22
ENST00000354577.8:c.4095+3833del (MED23)	ENSP00000346588.4:n.4095+3833del
ENST00000356962.2:c.962del (ARG1)	ENSP00000349446.2:p.Lys321SerfsTer22
ENST00000368087.7:c.938del (ARG1)	ENSP00000357066.3:p.Lys313SerfsTer22
NM_000045.3:c.938del (ARG1)	NP_000036.2:p.Lys313SerfsTer22
NM_001244438.1:c.962del (ARG1)	NP_001231367.1:p.Lys321SerfsTer22
NM_001270521.1:c.4077+3833del (MED23)	NP_001257450.1:n.4077+3833del
NM_015979.3:c.4095+3833del (MED23)	NP_057063.2:n.4095+3833del
XM_011535801.1:c.683del (ARG1)	XP_011534103.1:p.Lys228SerfsTer22
XM_011535801.2:c.683del (ARG1)	XP_011534103.1:p.Lys228SerfsTer22
NM_000045.4:c.938del (ARG1) MANE Select	NP_000036.2:p.Lys313SerfsTer22
NM_001244438.2:c.962del (ARG1)	NP_001231367.1:p.Lys321SerfsTer22
NM_001270521.2:c.4077+3833del (MED23)	NP_001257450.1:n.4077+3833del
NM_001369020.1:c.683del (ARG1)	NP_001355949.1:p.Lys228SerfsTer22
NM_015979.4:c.4095+3833del (MED23)	NP_057063.2:n.4095+3833del
NR_160934.1:n.922del (ARG1)