Canonical Allele Identifier: CA2613149461

Gene: RAG1 RAG2

Linked Data

• gnomAD v4: 11-36576453-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.36576453T>C , CM000673.2:g.36576453T>C	GRCh38
NC_000011.9:g.36598003T>C , CM000673.1:g.36598003T>C	GRCh37
NC_000011.8:g.36554579T>C	NCBI36
NG_007528.1:g.13441T>C , LRG_98:g.13441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697713.1:c.*17T>C (RAG1)	ENSP00000513411.1:n.*17T>C
ENST00000697714.1:c.*17T>C (RAG1)	ENSP00000513412.1:n.*17T>C
ENST00000697715.1:c.*17T>C (RAG1)	ENSP00000513413.1:n.*17T>C
ENST00000299440.6:c.*17T>C (RAG1) MANE Select	ENSP00000299440.5:n.*17T>C
ENST00000299440.5:c.*17T>C (RAG1)	ENSP00000299440.5:n.*17T>C
ENST00000524423.1:n.132-482A>G (RAG2)
ENST00000534663.1:c.2789+360T>C (RAG1)	ENSP00000434610.1:n.2789+360T>C
NM_000448.2:c.*17T>C , LRG_98t1:c.*17T>C (RAG1)	NP_000439.1:n.*17T>C
XM_005253041.3:c.*17T>C (RAG1)	XP_005253098.1:n.*17T>C
XM_011520250.1:c.*17T>C (RAG1)	XP_011518552.1:n.*17T>C
XM_011520251.1:c.*17T>C (RAG1)	XP_011518553.1:n.*17T>C
XM_005253041.4:c.*17T>C (RAG1)	XP_005253098.1:n.*17T>C
XM_011520250.2:c.*17T>C (RAG1)	XP_011518552.1:n.*17T>C
NM_000448.3:c.*17T>C (RAG1) MANE Select	NP_000439.2:n.*17T>C
NM_001377277.1:c.*17T>C (RAG1)	NP_001364206.1:n.*17T>C
NM_001377278.1:c.*17T>C (RAG1)	NP_001364207.1:n.*17T>C
NM_001377279.1:c.*17T>C (RAG1)	NP_001364208.1:n.*17T>C
NM_001377280.1:c.*17T>C (RAG1)	NP_001364209.1:n.*17T>C