Canonical Allele Identifier: CA1094531386

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs1774049945
• gnomAD v3: 6-131583564-G-GC
• gnomAD v4: 6-131583564-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583564_131583565insC , CM000668.2:g.131583564_131583565insC	GRCh38
NC_000006.11:g.131904704_131904705insC , CM000668.1:g.131904704_131904705insC	GRCh37
NC_000006.10:g.131946397_131946398insC	NCBI36
NG_007086.2:g.15340_15341insC
NG_031860.1:g.49659_49660insG
NG_031860.2:g.49659_49660insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.802+73_802+74insC (ARG1) MANE Select	ENSP00000357066.3:n.802+73_802+74insC
ENST00000640973.1:c.605-238_605-237insC (ARG1)	ENSP00000492623.1:n.605-238_605-237insC
ENST00000672233.1:c.748+73_748+74insC (ARG1)	ENSP00000499826.1:n.748+73_748+74insC
ENST00000673234.1:c.*689+73_*689+74insC (ARG1)	ENSP00000499885.1:n.*689+73_*689+74insC
ENST00000673427.1:c.547+73_547+74insC (ARG1)	ENSP00000500160.1:n.547+73_547+74insC
ENST00000354577.8:c.4095+4144_4095+4145insG (MED23)	ENSP00000346588.4:n.4095+4144_4095+4145insG
ENST00000356962.2:c.826+73_826+74insC (ARG1)	ENSP00000349446.2:n.826+73_826+74insC
ENST00000368087.7:c.802+73_802+74insC (ARG1)	ENSP00000357066.3:n.802+73_802+74insC
NM_000045.3:c.802+73_802+74insC (ARG1)	NP_000036.2:n.802+73_802+74insC
NM_001244438.1:c.826+73_826+74insC (ARG1)	NP_001231367.1:n.826+73_826+74insC
NM_001270521.1:c.4077+4144_4077+4145insG (MED23)	NP_001257450.1:n.4077+4144_4077+4145insG
NM_015979.3:c.4095+4144_4095+4145insG (MED23)	NP_057063.2:n.4095+4144_4095+4145insG
XM_011535801.1:c.547+73_547+74insC (ARG1)	XP_011534103.1:n.547+73_547+74insC
XM_011535801.2:c.547+73_547+74insC (ARG1)	XP_011534103.1:n.547+73_547+74insC
NM_000045.4:c.802+73_802+74insC (ARG1) MANE Select	NP_000036.2:n.802+73_802+74insC
NM_001244438.2:c.826+73_826+74insC (ARG1)	NP_001231367.1:n.826+73_826+74insC
NM_001270521.2:c.4077+4144_4077+4145insG (MED23)	NP_001257450.1:n.4077+4144_4077+4145insG
NM_001369020.1:c.547+73_547+74insC (ARG1)	NP_001355949.1:n.547+73_547+74insC
NM_015979.4:c.4095+4144_4095+4145insG (MED23)	NP_057063.2:n.4095+4144_4095+4145insG
NR_160934.1:n.786+73_786+74insC (ARG1)