Canonical Allele Identifier: CA2680353604

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583575-CCAGCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583578_131583584del , CM000668.2:g.131583578_131583584del	GRCh38
NC_000006.11:g.131904718_131904724del , CM000668.1:g.131904718_131904724del	GRCh37
NC_000006.10:g.131946411_131946417del	NCBI36
NG_007086.2:g.15354_15360del
NG_031860.1:g.49642_49648del
NG_031860.2:g.49642_49648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.802+87_802+93del (ARG1) MANE Select	ENSP00000357066.3:n.802+87_802+93del
ENST00000640973.1:c.605-224_605-218del (ARG1)	ENSP00000492623.1:n.605-224_605-218del
ENST00000672233.1:c.748+87_748+93del (ARG1)	ENSP00000499826.1:n.748+87_748+93del
ENST00000673234.1:c.*689+87_*689+93del (ARG1)	ENSP00000499885.1:n.*689+87_*689+93del
ENST00000673427.1:c.547+87_547+93del (ARG1)	ENSP00000500160.1:n.547+87_547+93del
ENST00000354577.8:c.4095+4127_4095+4133del (MED23)	ENSP00000346588.4:n.4095+4127_4095+4133del
ENST00000356962.2:c.826+87_826+93del (ARG1)	ENSP00000349446.2:n.826+87_826+93del
ENST00000368087.7:c.802+87_802+93del (ARG1)	ENSP00000357066.3:n.802+87_802+93del
NM_000045.3:c.802+87_802+93del (ARG1)	NP_000036.2:n.802+87_802+93del
NM_001244438.1:c.826+87_826+93del (ARG1)	NP_001231367.1:n.826+87_826+93del
NM_001270521.1:c.4077+4127_4077+4133del (MED23)	NP_001257450.1:n.4077+4127_4077+4133del
NM_015979.3:c.4095+4127_4095+4133del (MED23)	NP_057063.2:n.4095+4127_4095+4133del
XM_011535801.1:c.547+87_547+93del (ARG1)	XP_011534103.1:n.547+87_547+93del
XM_011535801.2:c.547+87_547+93del (ARG1)	XP_011534103.1:n.547+87_547+93del
NM_000045.4:c.802+87_802+93del (ARG1) MANE Select	NP_000036.2:n.802+87_802+93del
NM_001244438.2:c.826+87_826+93del (ARG1)	NP_001231367.1:n.826+87_826+93del
NM_001270521.2:c.4077+4127_4077+4133del (MED23)	NP_001257450.1:n.4077+4127_4077+4133del
NM_001369020.1:c.547+87_547+93del (ARG1)	NP_001355949.1:n.547+87_547+93del
NM_015979.4:c.4095+4127_4095+4133del (MED23)	NP_057063.2:n.4095+4127_4095+4133del
NR_160934.1:n.786+87_786+93del (ARG1)