Canonical Allele Identifier: CA10610621

Gene: IL1RN

Linked Data

• ClinVar Variation Id: 330840
• ClinVar RCV Id: RCV000398420
• dbSNP Id: rs565976240
• gnomAD v2: 2-113890927-AT-A
• gnomAD v3: 2-113133350-AT-A
• gnomAD v4: 2-113133350-AT-A
• MyVariant Identifiers: chr2:g.113890938del (hg19) ; chr2:g.113890928del (hg19) ; chr2:g.113133361del (hg38) ; chr2:g.113133351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113133361del , CM000664.2:g.113133361del	GRCh38
NC_000002.11:g.113890938del , CM000664.1:g.113890938del	GRCh37
NC_000002.10:g.113607409del	NCBI36
NG_021240.1:g.20469del , LRG_188:g.20469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409052.6:c.*490del	ENSP00000387210.1:n.*490del
ENST00000696879.1:c.*490del	ENSP00000512947.1:n.*490del
ENST00000696880.1:c.*212-4del	ENSP00000512948.1:n.*212-4del
ENST00000696882.1:c.*794del	ENSP00000512950.1:n.*794del
ENST00000409930.4:c.*490del MANE Select	ENSP00000387173.3:n.*490del
ENST00000259206.9:c.*490del	ENSP00000259206.5:n.*490del
ENST00000354115.6:c.*490del	ENSP00000329072.3:n.*490del
ENST00000361779.7:c.*490del	ENSP00000354816.3:n.*490del
ENST00000409052.5:c.*490del	ENSP00000387210.1:n.*490del
NM_000577.4:c.*490del	NP_000568.1:n.*490del
NM_173841.2:c.*490del , LRG_188t1:c.*490del	NP_776213.1:n.*490del
NM_173842.2:c.*490del	NP_776214.1:n.*490del
NM_173843.2:c.*490del	NP_776215.1:n.*490del
XM_005263661.3:c.*490del	XP_005263718.1:n.*490del
XM_006712497.2:c.*490del	XP_006712560.1:n.*490del
XM_011511121.1:c.*490del	XP_011509423.1:n.*490del
NM_001318914.1:c.*490del	NP_001305843.1:n.*490del
XM_005263661.4:c.*490del	XP_005263718.1:n.*490del
NM_000577.5:c.*490del	NP_000568.1:n.*490del
NM_001318914.2:c.*490del	NP_001305843.1:n.*490del
NM_173842.3:c.*490del MANE Select	NP_776214.1:n.*490del
NM_173843.3:c.*490del	NP_776215.1:n.*490del
NM_001379360.1:c.*490del	NP_001366289.1:n.*490del
NM_173841.3:c.*490del	NP_776213.1:n.*490del