Canonical Allele Identifier: CA2680353924

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583870-A-AATC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583872_131583874dup , CM000668.2:g.131583872_131583874dup	GRCh38
NC_000006.11:g.131905012_131905014dup , CM000668.1:g.131905012_131905014dup	GRCh37
NC_000006.10:g.131946705_131946707dup	NCBI36
NG_007086.2:g.15648_15650dup
NG_031860.1:g.49351_49353dup
NG_031860.2:g.49351_49353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.933_935dup (ARG1) MANE Select	ENSP00000357066.3:p.His312_Lys313insHis
ENST00000640973.1:c.675_677dup (ARG1)	ENSP00000492623.1:p.His226_Lys227insHis
ENST00000672233.1:c.879_881dup (ARG1)	ENSP00000499826.1:p.His294_Lys295insHis
ENST00000673234.1:c.*820_*822dup (ARG1)	ENSP00000499885.1:n.*820_*822dup
ENST00000673427.1:c.678_680dup (ARG1)	ENSP00000500160.1:p.His227_Lys228insHis
ENST00000354577.8:c.4095+3836_4095+3838dup (MED23)	ENSP00000346588.4:n.4095+3836_4095+3838dup
ENST00000356962.2:c.957_959dup (ARG1)	ENSP00000349446.2:p.His320_Lys321insHis
ENST00000368087.7:c.933_935dup (ARG1)	ENSP00000357066.3:p.His312_Lys313insHis
NM_000045.3:c.933_935dup (ARG1)	NP_000036.2:p.His312_Lys313insHis
NM_001244438.1:c.957_959dup (ARG1)	NP_001231367.1:p.His320_Lys321insHis
NM_001270521.1:c.4077+3836_4077+3838dup (MED23)	NP_001257450.1:n.4077+3836_4077+3838dup
NM_015979.3:c.4095+3836_4095+3838dup (MED23)	NP_057063.2:n.4095+3836_4095+3838dup
XM_011535801.1:c.678_680dup (ARG1)	XP_011534103.1:p.His227_Lys228insHis
XM_011535801.2:c.678_680dup (ARG1)	XP_011534103.1:p.His227_Lys228insHis
NM_000045.4:c.933_935dup (ARG1) MANE Select	NP_000036.2:p.His312_Lys313insHis
NM_001244438.2:c.957_959dup (ARG1)	NP_001231367.1:p.His320_Lys321insHis
NM_001270521.2:c.4077+3836_4077+3838dup (MED23)	NP_001257450.1:n.4077+3836_4077+3838dup
NM_001369020.1:c.678_680dup (ARG1)	NP_001355949.1:p.His227_Lys228insHis
NM_015979.4:c.4095+3836_4095+3838dup (MED23)	NP_057063.2:n.4095+3836_4095+3838dup
NR_160934.1:n.917_919dup (ARG1)