Canonical Allele Identifier: CA570093607

Gene: ARG1 MED23

Linked Data

• dbSNP Id: rs1562359317
• gnomAD v2: 6-131902682-GCTCT-G
• gnomAD v3: 6-131581542-GCTCT-G
• gnomAD v4: 6-131581542-GCTCT-G
• MyVariant Identifiers: chr6:g.131902683_131902686del (hg19) ; chr6:g.131581543_131581546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131581545_131581548del , CM000668.2:g.131581545_131581548del	GRCh38
NC_000006.11:g.131902685_131902688del , CM000668.1:g.131902685_131902688del	GRCh37
NC_000006.10:g.131944378_131944381del	NCBI36
NG_007086.2:g.13321_13324del
NG_031860.1:g.51678_51681del
NG_031860.2:g.51678_51681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.465+167_465+170del (ARG1) MANE Select	ENSP00000357066.3:n.465+167_465+170del
ENST00000640973.1:c.465+167_465+170del (ARG1)	ENSP00000492623.1:n.465+167_465+170del
ENST00000672233.1:c.411+167_411+170del (ARG1)	ENSP00000499826.1:n.411+167_411+170del
ENST00000673234.1:c.*352+167_*352+170del (ARG1)	ENSP00000499885.1:n.*352+167_*352+170del
ENST00000673427.1:c.306-1515_306-1512del (ARG1)	ENSP00000500160.1:n.306-1515_306-1512del
ENST00000275196.5:n.449+167_449+170del (ARG1)
ENST00000354577.8:c.4095+6163_4095+6166del (MED23)	ENSP00000346588.4:n.4095+6163_4095+6166del
ENST00000356962.2:c.489+167_489+170del (ARG1)	ENSP00000349446.2:n.489+167_489+170del
ENST00000368087.7:c.465+167_465+170del (ARG1)	ENSP00000357066.3:n.465+167_465+170del
NM_000045.3:c.465+167_465+170del (ARG1)	NP_000036.2:n.465+167_465+170del
NM_001244438.1:c.489+167_489+170del (ARG1)	NP_001231367.1:n.489+167_489+170del
NM_001270521.1:c.4077+6163_4077+6166del (MED23)	NP_001257450.1:n.4077+6163_4077+6166del
NM_015979.3:c.4095+6163_4095+6166del (MED23)	NP_057063.2:n.4095+6163_4095+6166del
XM_011535801.1:c.306-1515_306-1512del (ARG1)	XP_011534103.1:n.306-1515_306-1512del
XM_011535801.2:c.306-1515_306-1512del (ARG1)	XP_011534103.1:n.306-1515_306-1512del
NM_000045.4:c.465+167_465+170del (ARG1) MANE Select	NP_000036.2:n.465+167_465+170del
NM_001244438.2:c.489+167_489+170del (ARG1)	NP_001231367.1:n.489+167_489+170del
NM_001270521.2:c.4077+6163_4077+6166del (MED23)	NP_001257450.1:n.4077+6163_4077+6166del
NM_001369020.1:c.306-1515_306-1512del (ARG1)	NP_001355949.1:n.306-1515_306-1512del
NM_015979.4:c.4095+6163_4095+6166del (MED23)	NP_057063.2:n.4095+6163_4095+6166del
NR_160934.1:n.449+167_449+170del (ARG1)