Canonical Allele Identifier: CA1964193444

Gene: RAG2 RAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36592971_36592974delinsCAAA , CM000673.2:g.36592971_36592974delinsCAAA	GRCh38
NC_000011.9:g.36614521_36614524delinsCAAA , CM000673.1:g.36614521_36614524delinsCAAA	GRCh37
NC_000011.8:g.36571097_36571100delinsCAAA	NCBI36
NG_007573.1:g.10263_10266delinsTTTG , LRG_99:g.10263_10266delinsTTTG
NG_033154.1:g.3479_3482delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527033.6:c.1195_1198delinsTTTG (RAG2)	ENSP00000436895.2:p.Phe399=
ENST00000529083.2:c.1195_1198delinsTTTG (RAG2)	ENSP00000436327.2:p.Phe399=
ENST00000532616.2:c.1195_1198delinsTTTG (RAG2)	ENSP00000432174.2:p.Phe399=
ENST00000311485.8:c.1195_1198delinsTTTG (RAG2) MANE Select	ENSP00000308620.4:p.Phe399=
ENST00000311485.7:c.1195_1198delinsTTTG (RAG2)	ENSP00000308620.3:p.Phe399=
ENST00000524423.1:n.131+5128_131+5131delinsTTTG (RAG2)
ENST00000534663.1:c.*90_*93delinsCAAA (RAG1)	ENSP00000434610.1:n.*90_*93delinsCAAA
ENST00000618712.4:c.1195_1198delinsTTTG (RAG2)	ENSP00000478672.1:p.Phe399=
NM_000536.3:c.1195_1198delinsTTTG (RAG2)	NP_000527.2:p.Phe399=
NM_001243785.1:c.1195_1198delinsTTTG (RAG2)	NP_001230714.1:p.Phe399=
NM_001243786.1:c.1195_1198delinsTTTG (RAG2)	NP_001230715.1:p.Phe399=
NM_000536.4:c.1195_1198delinsTTTG (RAG2) MANE Select	NP_000527.2:p.Phe399=
NM_001243785.2:c.1195_1198delinsTTTG (RAG2)	NP_001230714.1:p.Phe399=
NM_001243786.2:c.1195_1198delinsTTTG (RAG2)	NP_001230715.1:p.Phe399=