Canonical Allele Identifier: CA2680353690

Gene: ARG1 MED23

Linked Data

• gnomAD v4: 6-131583614-C-CACTTTAGTTATTGCATCATGTGACTGATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131583615_131583616insCTTTAGTTATTGCATCATGTGACTGATGGA , CM000668.2:g.131583615_131583616insCTTTAGTTATTGCATCATGTGACTGATGGA	GRCh38
NC_000006.11:g.131904755_131904756insCTTTAGTTATTGCATCATGTGACTGATGGA , CM000668.1:g.131904755_131904756insCTTTAGTTATTGCATCATGTGACTGATGGA	GRCh37
NC_000006.10:g.131946448_131946449insCTTTAGTTATTGCATCATGTGACTGATGGA	NCBI36
NG_007086.2:g.15391_15392insCTTTAGTTATTGCATCATGTGACTGATGGA
NG_031860.1:g.49609_49610insCCATCAGTCACATGATGCAATAACTAAAGT
NG_031860.2:g.49609_49610insCCATCAGTCACATGATGCAATAACTAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368087.8:c.802+124_803-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1) MANE Select	ENSP00000357066.3:n.802+124_803-126insCTTTAGTTATTGCATCATGTGAC...
ENST00000640973.1:c.605-187_605-186insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	ENSP00000492623.1:n.605-187_605-186insCTTTAGTTATTGCATCATGTGAC...
ENST00000672233.1:c.748+124_749-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	ENSP00000499826.1:n.748+124_749-126insCTTTAGTTATTGCATCATGTGAC...
ENST00000673234.1:c.*689+124_*690-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	ENSP00000499885.1:n.*689+124_*690-126insCTTTAGTTATTGCATCATGTG...
ENST00000673427.1:c.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	ENSP00000500160.1:n.547+124_548-126insCTTTAGTTATTGCATCATGTGAC...
ENST00000354577.8:c.4095+4094_4095+4095insCCATCAGTCACATGATGCAATAACTAAAGT (MED23)	ENSP00000346588.4:n.4095+4094_4095+4095insCCATCAGTCACATGATGCA...
ENST00000356962.2:c.826+124_827-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	ENSP00000349446.2:n.826+124_827-126insCTTTAGTTATTGCATCATGTGAC...
ENST00000368087.7:c.802+124_803-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	ENSP00000357066.3:n.802+124_803-126insCTTTAGTTATTGCATCATGTGAC...
NM_000045.3:c.802+124_803-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	NP_000036.2:n.802+124_803-126insCTTTAGTTATTGCATCATGTGACTGATGG...
NM_001244438.1:c.826+124_827-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	NP_001231367.1:n.826+124_827-126insCTTTAGTTATTGCATCATGTGACTGA...
NM_001270521.1:c.4077+4094_4077+4095insCCATCAGTCACATGATGCAATAACTAAAGT (MED23)	NP_001257450.1:n.4077+4094_4077+4095insCCATCAGTCACATGATGCAATA...
NM_015979.3:c.4095+4094_4095+4095insCCATCAGTCACATGATGCAATAACTAAAGT (MED23)	NP_057063.2:n.4095+4094_4095+4095insCCATCAGTCACATGATGCAATAACT...
XM_011535801.1:c.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	XP_011534103.1:n.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGA...
XM_011535801.2:c.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	XP_011534103.1:n.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGA...
NM_000045.4:c.802+124_803-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1) MANE Select	NP_000036.2:n.802+124_803-126insCTTTAGTTATTGCATCATGTGACTGATGG...
NM_001244438.2:c.826+124_827-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	NP_001231367.1:n.826+124_827-126insCTTTAGTTATTGCATCATGTGACTGA...
NM_001270521.2:c.4077+4094_4077+4095insCCATCAGTCACATGATGCAATAACTAAAGT (MED23)	NP_001257450.1:n.4077+4094_4077+4095insCCATCAGTCACATGATGCAATA...
NM_001369020.1:c.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)	NP_001355949.1:n.547+124_548-126insCTTTAGTTATTGCATCATGTGACTGA...
NM_015979.4:c.4095+4094_4095+4095insCCATCAGTCACATGATGCAATAACTAAAGT (MED23)	NP_057063.2:n.4095+4094_4095+4095insCCATCAGTCACATGATGCAATAACT...
NR_160934.1:n.786+124_787-126insCTTTAGTTATTGCATCATGTGACTGATGGA (ARG1)