Canonical Allele Identifier: CA533175157

Gene: REL

Linked Data

• dbSNP Id: rs1259767876
• gnomAD v2: 2-61124749-TGC-T
• gnomAD v3: 2-60897614-TGC-T
• gnomAD v4: 2-60897614-TGC-T
• MyVariant Identifiers: chr2:g.61124750_61124751del (hg19) ; chr2:g.60897615_60897616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.60897615_60897616del , CM000664.2:g.60897615_60897616del	GRCh38
NC_000002.11:g.61124750_61124751del , CM000664.1:g.61124750_61124751del	GRCh37
NC_000002.10:g.60978254_60978255del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699191.1:c.302+3070_302+3071del	ENSP00000514191.1:n.302+3070_302+3071del
ENST00000699192.1:c.302+3070_302+3071del	ENSP00000514192.1:n.302+3070_302+3071del
ENST00000699193.1:c.302+3070_302+3071del	ENSP00000514193.1:n.302+3070_302+3071del
ENST00000699194.1:n.253+3070_253+3071del
ENST00000394479.4:c.302+3070_302+3071del MANE Select	ENSP00000377989.4:n.302+3070_302+3071del
ENST00000642725.1:c.150-1355_150-1354del	ENSP00000496299.1:n.150-1355_150-1354del
ENST00000295025.12:c.302+3070_302+3071del	ENSP00000295025.7:n.302+3070_302+3071del
ENST00000394479.3:c.302+3070_302+3071del	ENSP00000377989.3:n.302+3070_302+3071del
NM_001291746.1:c.302+3070_302+3071del	NP_001278675.1:n.302+3070_302+3071del
NM_002908.3:c.302+3070_302+3071del	NP_002899.1:n.302+3070_302+3071del
XM_017004627.2:c.302+3070_302+3071del	XP_016860116.1:n.302+3070_302+3071del
NM_001291746.2:c.302+3070_302+3071del MANE Select	NP_001278675.1:n.302+3070_302+3071del
NM_002908.4:c.302+3070_302+3071del	NP_002899.1:n.302+3070_302+3071del