Canonical Allele Identifier: CA2680353686

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583613-G-GGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583613_131583614insGAAAA , CM000668.2:g.131583613_131583614insGAAAA	GRCh38
NC_000006.11:g.131904753_131904754insGAAAA , CM000668.1:g.131904753_131904754insGAAAA	GRCh37
NC_000006.10:g.131946446_131946447insGAAAA	NCBI36
NG_007086.2:g.15389_15390insGAAAA
NG_031860.1:g.49610_49611insTTTTC
NG_031860.2:g.49610_49611insTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.802+122_802+123insGAAAA (ARG1) MANE Select	ENSP00000357066.3:n.802+122_802+123insGAAAA
ENST00000640973.1:c.605-189_605-188insGAAAA (ARG1)	ENSP00000492623.1:n.605-189_605-188insGAAAA
ENST00000672233.1:c.748+122_748+123insGAAAA (ARG1)	ENSP00000499826.1:n.748+122_748+123insGAAAA
ENST00000673234.1:c.*689+122_*689+123insGAAAA (ARG1)	ENSP00000499885.1:n.*689+122_*689+123insGAAAA
ENST00000673427.1:c.547+122_547+123insGAAAA (ARG1)	ENSP00000500160.1:n.547+122_547+123insGAAAA
ENST00000354577.8:c.4095+4095_4095+4096insTTTTC (MED23)	ENSP00000346588.4:n.4095+4095_4095+4096insTTTTC
ENST00000356962.2:c.826+122_826+123insGAAAA (ARG1)	ENSP00000349446.2:n.826+122_826+123insGAAAA
ENST00000368087.7:c.802+122_802+123insGAAAA (ARG1)	ENSP00000357066.3:n.802+122_802+123insGAAAA
NM_000045.3:c.802+122_802+123insGAAAA (ARG1)	NP_000036.2:n.802+122_802+123insGAAAA
NM_001244438.1:c.826+122_826+123insGAAAA (ARG1)	NP_001231367.1:n.826+122_826+123insGAAAA
NM_001270521.1:c.4077+4095_4077+4096insTTTTC (MED23)	NP_001257450.1:n.4077+4095_4077+4096insTTTTC
NM_015979.3:c.4095+4095_4095+4096insTTTTC (MED23)	NP_057063.2:n.4095+4095_4095+4096insTTTTC
XM_011535801.1:c.547+122_547+123insGAAAA (ARG1)	XP_011534103.1:n.547+122_547+123insGAAAA
XM_011535801.2:c.547+122_547+123insGAAAA (ARG1)	XP_011534103.1:n.547+122_547+123insGAAAA
NM_000045.4:c.802+122_802+123insGAAAA (ARG1) MANE Select	NP_000036.2:n.802+122_802+123insGAAAA
NM_001244438.2:c.826+122_826+123insGAAAA (ARG1)	NP_001231367.1:n.826+122_826+123insGAAAA
NM_001270521.2:c.4077+4095_4077+4096insTTTTC (MED23)	NP_001257450.1:n.4077+4095_4077+4096insTTTTC
NM_001369020.1:c.547+122_547+123insGAAAA (ARG1)	NP_001355949.1:n.547+122_547+123insGAAAA
NM_015979.4:c.4095+4095_4095+4096insTTTTC (MED23)	NP_057063.2:n.4095+4095_4095+4096insTTTTC
NR_160934.1:n.786+122_786+123insGAAAA (ARG1)