Canonical Allele Identifier: CA1664137735

Gene: ARG1 MED23

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583752_131583753delinsAG , CM000668.2:g.131583752_131583753delinsAG	GRCh38
NC_000006.11:g.131904892_131904893delinsAG , CM000668.1:g.131904892_131904893delinsAG	GRCh37
NC_000006.10:g.131946585_131946586delinsAG	NCBI36
NG_007086.2:g.15528_15529delinsAG
NG_031860.1:g.49471_49472delinsCT
NG_031860.2:g.49471_49472delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000368087.8:c.813_814delinsAG (ARG1) MANE Select	ENSP00000357066.3:p.Ser271=
ENST00000640973.1:c.605-50_605-49delinsAG (ARG1)	ENSP00000492623.1:n.605-50_605-49delinsAG...
ENST00000672233.1:c.759_760delinsAG (ARG1)	ENSP00000499826.1:p.Ser253=
ENST00000673234.1:c.*700_*701delinsAG (ARG1)	ENSP00000499885.1:n.*700_*701delinsAG
ENST00000673427.1:c.558_559delinsAG (ARG1)	ENSP00000500160.1:p.Ser186=
ENST00000354577.8:c.4095+3956_4095+3957delinsCT (MED23)	ENSP00000346588.4:n.4095+3956_4095+3957de...
ENST00000356962.2:c.837_838delinsAG (ARG1)	ENSP00000349446.2:p.Ser279=
ENST00000368087.7:c.813_814delinsAG (ARG1)	ENSP00000357066.3:p.Ser271=
NM_000045.3:c.813_814delinsAG (ARG1)	NP_000036.2:p.Ser271=
NM_001244438.1:c.837_838delinsAG (ARG1)	NP_001231367.1:p.Ser279=
NM_001270521.1:c.4077+3956_4077+3957delinsCT (MED23)	NP_001257450.1:n.4077+3956_4077+3957delin...
NM_015979.3:c.4095+3956_4095+3957delinsCT (MED23)	NP_057063.2:n.4095+3956_4095+3957delinsCT...
XM_011535801.1:c.558_559delinsAG (ARG1)	XP_011534103.1:p.Ser186=
XM_011535801.2:c.558_559delinsAG (ARG1)	XP_011534103.1:p.Ser186=
NM_000045.4:c.813_814delinsAG (ARG1) MANE Select	NP_000036.2:p.Ser271=
NM_001244438.2:c.837_838delinsAG (ARG1)	NP_001231367.1:p.Ser279=
NM_001270521.2:c.4077+3956_4077+3957delinsCT (MED23)	NP_001257450.1:n.4077+3956_4077+3957delin...
NM_001369020.1:c.558_559delinsAG (ARG1)	NP_001355949.1:p.Ser186=
NM_015979.4:c.4095+3956_4095+3957delinsCT (MED23)	NP_057063.2:n.4095+3956_4095+3957delinsCT...
NR_160934.1:n.797_798delinsAG (ARG1)