Canonical Allele Identifier: CA819015890

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs1364011295
• gnomAD v3: 6-131583597-C-CCAT
• gnomAD v4: 6-131583597-C-CCAT
• MyVariant Identifiers: chr6:g.131904737_131904738insCAT (hg19) ; chr6:g.131583597_131583598insCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583600_131583602dup , CM000668.2:g.131583600_131583602dup	GRCh38
NC_000006.11:g.131904740_131904742dup , CM000668.1:g.131904740_131904742dup	GRCh37
NC_000006.10:g.131946433_131946435dup	NCBI36
NG_007086.2:g.15376_15378dup
NG_031860.1:g.49624_49626dup
NG_031860.2:g.49624_49626dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.802+109_802+111dup (ARG1) MANE Select	ENSP00000357066.3:n.802+109_802+111dup
ENST00000640973.1:c.605-202_605-200dup (ARG1)	ENSP00000492623.1:n.605-202_605-200dup
ENST00000672233.1:c.748+109_748+111dup (ARG1)	ENSP00000499826.1:n.748+109_748+111dup
ENST00000673234.1:c.*689+109_*689+111dup (ARG1)	ENSP00000499885.1:n.*689+109_*689+111dup
ENST00000673427.1:c.547+109_547+111dup (ARG1)	ENSP00000500160.1:n.547+109_547+111dup
ENST00000354577.8:c.4095+4109_4095+4111dup (MED23)	ENSP00000346588.4:n.4095+4109_4095+4111dup
ENST00000356962.2:c.826+109_826+111dup (ARG1)	ENSP00000349446.2:n.826+109_826+111dup
ENST00000368087.7:c.802+109_802+111dup (ARG1)	ENSP00000357066.3:n.802+109_802+111dup
NM_000045.3:c.802+109_802+111dup (ARG1)	NP_000036.2:n.802+109_802+111dup
NM_001244438.1:c.826+109_826+111dup (ARG1)	NP_001231367.1:n.826+109_826+111dup
NM_001270521.1:c.4077+4109_4077+4111dup (MED23)	NP_001257450.1:n.4077+4109_4077+4111dup
NM_015979.3:c.4095+4109_4095+4111dup (MED23)	NP_057063.2:n.4095+4109_4095+4111dup
XM_011535801.1:c.547+109_547+111dup (ARG1)	XP_011534103.1:n.547+109_547+111dup
XM_011535801.2:c.547+109_547+111dup (ARG1)	XP_011534103.1:n.547+109_547+111dup
NM_000045.4:c.802+109_802+111dup (ARG1) MANE Select	NP_000036.2:n.802+109_802+111dup
NM_001244438.2:c.826+109_826+111dup (ARG1)	NP_001231367.1:n.826+109_826+111dup
NM_001270521.2:c.4077+4109_4077+4111dup (MED23)	NP_001257450.1:n.4077+4109_4077+4111dup
NM_001369020.1:c.547+109_547+111dup (ARG1)	NP_001355949.1:n.547+109_547+111dup
NM_015979.4:c.4095+4109_4095+4111dup (MED23)	NP_057063.2:n.4095+4109_4095+4111dup
NR_160934.1:n.786+109_786+111dup (ARG1)