Canonical Allele Identifier: CA2680353926

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583902-TAAGTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583904_131583909del , CM000668.2:g.131583904_131583909del	GRCh38
NC_000006.11:g.131905044_131905049del , CM000668.1:g.131905044_131905049del	GRCh37
NC_000006.10:g.131946737_131946742del	NCBI36
NG_007086.2:g.15680_15685del
NG_031860.1:g.49316_49321del
NG_031860.2:g.49316_49321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.965_*1del (ARG1) MANE Select	ENSP00000357066.3:n.[c.965_*1del;Lys322MetfsTer7]
ENST00000672233.1:c.911_*1del (ARG1)	ENSP00000499826.1:n.[c.911_*1del;Lys304MetfsTer7]
ENST00000673234.1:c.*852_*857del (ARG1)	ENSP00000499885.1:n.*852_*857del
ENST00000673427.1:c.710_*1del (ARG1)	ENSP00000500160.1:n.[c.710_*1del;Lys237MetfsTer7]
ENST00000354577.8:c.4095+3801_4095+3806del (MED23)	ENSP00000346588.4:n.4095+3801_4095+3806del
ENST00000356962.2:c.989_*1del (ARG1)	ENSP00000349446.2:n.[c.989_*1del;Lys330MetfsTer7]
ENST00000368087.7:c.965_*1del (ARG1)	ENSP00000357066.3:n.[c.965_*1del;Lys322MetfsTer7]
NM_000045.3:c.965_*1del (ARG1)	NP_000036.2:n.[c.965_*1del;Lys322MetfsTer7]
NM_001244438.1:c.989_*1del (ARG1)	NP_001231367.1:n.[c.989_*1del;Lys330MetfsTer7]
NM_001270521.1:c.4077+3801_4077+3806del (MED23)	NP_001257450.1:n.4077+3801_4077+3806del
NM_015979.3:c.4095+3801_4095+3806del (MED23)	NP_057063.2:n.4095+3801_4095+3806del
XM_011535801.1:c.710_*1del (ARG1)	XP_011534103.1:n.[c.710_*1del;Lys237MetfsTer7]
XM_011535801.2:c.710_*1del (ARG1)	XP_011534103.1:n.[c.710_*1del;Lys237MetfsTer7]
NM_000045.4:c.965_*1del (ARG1) MANE Select	NP_000036.2:n.[c.965_*1del;Lys322MetfsTer7]
NM_001244438.2:c.989_*1del (ARG1)	NP_001231367.1:n.[c.989_*1del;Lys330MetfsTer7]
NM_001270521.2:c.4077+3801_4077+3806del (MED23)	NP_001257450.1:n.4077+3801_4077+3806del
NM_001369020.1:c.710_*1del (ARG1)	NP_001355949.1:n.[c.710_*1del;Lys237MetfsTer7]
NM_015979.4:c.4095+3801_4095+3806del (MED23)	NP_057063.2:n.4095+3801_4095+3806del
NR_160934.1:n.949_954del (ARG1)