Canonical Allele Identifier: CA1664137692

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs1774058133
• gnomAD v4: 6-131583729-T-TTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583737_131583739dup , CM000668.2:g.131583737_131583739dup	GRCh38
NC_000006.11:g.131904877_131904879dup , CM000668.1:g.131904877_131904879dup	GRCh37
NC_000006.10:g.131946570_131946572dup	NCBI36
NG_007086.2:g.15513_15515dup
NG_031860.1:g.49492_49494dup
NG_031860.2:g.49492_49494dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.803-5_803-3dup (ARG1) MANE Select	ENSP00000357066.3:n.803-5_803-3dup
ENST00000640973.1:c.605-65_605-63dup (ARG1)	ENSP00000492623.1:n.605-65_605-63dup
ENST00000672233.1:c.749-5_749-3dup (ARG1)	ENSP00000499826.1:n.749-5_749-3dup
ENST00000673234.1:c.*690-5_*690-3dup (ARG1)	ENSP00000499885.1:n.*690-5_*690-3dup
ENST00000673427.1:c.548-5_548-3dup (ARG1)	ENSP00000500160.1:n.548-5_548-3dup
ENST00000354577.8:c.4095+3977_4095+3979dup (MED23)	ENSP00000346588.4:n.4095+3977_4095+3979du...
ENST00000356962.2:c.827-5_827-3dup (ARG1)	ENSP00000349446.2:n.827-5_827-3dup
ENST00000368087.7:c.803-5_803-3dup (ARG1)	ENSP00000357066.3:n.803-5_803-3dup
NM_000045.3:c.803-5_803-3dup (ARG1)	NP_000036.2:n.803-5_803-3dup
NM_001244438.1:c.827-5_827-3dup (ARG1)	NP_001231367.1:n.827-5_827-3dup
NM_001270521.1:c.4077+3977_4077+3979dup (MED23)	NP_001257450.1:n.4077+3977_4077+3979dup
NM_015979.3:c.4095+3977_4095+3979dup (MED23)	NP_057063.2:n.4095+3977_4095+3979dup
XM_011535801.1:c.548-5_548-3dup (ARG1)	XP_011534103.1:n.548-5_548-3dup
XM_011535801.2:c.548-5_548-3dup (ARG1)	XP_011534103.1:n.548-5_548-3dup
NM_000045.4:c.803-5_803-3dup (ARG1) MANE Select	NP_000036.2:n.803-5_803-3dup
NM_001244438.2:c.827-5_827-3dup (ARG1)	NP_001231367.1:n.827-5_827-3dup
NM_001270521.2:c.4077+3977_4077+3979dup (MED23)	NP_001257450.1:n.4077+3977_4077+3979dup
NM_001369020.1:c.548-5_548-3dup (ARG1)	NP_001355949.1:n.548-5_548-3dup
NM_015979.4:c.4095+3977_4095+3979dup (MED23)	NP_057063.2:n.4095+3977_4095+3979dup
NR_160934.1:n.787-5_787-3dup (ARG1)