Canonical Allele Identifier: CA570093614

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs1444467417
• gnomAD v2: 6-131902779-TA-T
• gnomAD v3: 6-131581639-TA-T
• gnomAD v4: 6-131581639-TA-T
• MyVariant Identifiers: chr6:g.131902780del (hg19) ; chr6:g.131581640del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131581642del , CM000668.2:g.131581642del	GRCh38
NC_000006.11:g.131902782del , CM000668.1:g.131902782del	GRCh37
NC_000006.10:g.131944475del	NCBI36
NG_007086.2:g.13418del
NG_031860.1:g.51584del
NG_031860.2:g.51584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.465+264del (ARG1) MANE Select	ENSP00000357066.3:n.465+264del
ENST00000640973.1:c.465+264del (ARG1)	ENSP00000492623.1:n.465+264del
ENST00000672233.1:c.411+264del (ARG1)	ENSP00000499826.1:n.411+264del
ENST00000673234.1:c.*352+264del (ARG1)	ENSP00000499885.1:n.*352+264del
ENST00000673427.1:c.306-1418del (ARG1)	ENSP00000500160.1:n.306-1418del
ENST00000275196.5:n.449+264del (ARG1)
ENST00000354577.8:c.4095+6069del (MED23)	ENSP00000346588.4:n.4095+6069del
ENST00000356962.2:c.489+264del (ARG1)	ENSP00000349446.2:n.489+264del
ENST00000368087.7:c.465+264del (ARG1)	ENSP00000357066.3:n.465+264del
NM_000045.3:c.465+264del (ARG1)	NP_000036.2:n.465+264del
NM_001244438.1:c.489+264del (ARG1)	NP_001231367.1:n.489+264del
NM_001270521.1:c.4077+6069del (MED23)	NP_001257450.1:n.4077+6069del
NM_015979.3:c.4095+6069del (MED23)	NP_057063.2:n.4095+6069del
XM_011535801.1:c.306-1418del (ARG1)	XP_011534103.1:n.306-1418del
XM_011535801.2:c.306-1418del (ARG1)	XP_011534103.1:n.306-1418del
NM_000045.4:c.465+264del (ARG1) MANE Select	NP_000036.2:n.465+264del
NM_001244438.2:c.489+264del (ARG1)	NP_001231367.1:n.489+264del
NM_001270521.2:c.4077+6069del (MED23)	NP_001257450.1:n.4077+6069del
NM_001369020.1:c.306-1418del (ARG1)	NP_001355949.1:n.306-1418del
NM_015979.4:c.4095+6069del (MED23)	NP_057063.2:n.4095+6069del
NR_160934.1:n.449+264del (ARG1)