Canonical Allele Identifier: CA2010296

Gene: CERKL ITGA4

Linked Data

• ClinVar Variation Id: 332993
• ClinVar RCV Id: RCV000360469
• dbSNP Id: rs74486071
• ExAC: 2:182402437 GT / G
• gnomAD v2: 2-182402437-GT-G
• gnomAD v3: 2-181537710-GT-G
• gnomAD v4: 2-181537710-GT-G
• MyVariant Identifiers: chr2:g.182402441del (hg19) ; chr2:g.182402438del (hg19) ; chr2:g.181537714del (hg38) ; chr2:g.181537711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181537717del , CM000664.2:g.181537717del	GRCh38
NC_000002.11:g.182402444del , CM000664.1:g.182402444del	GRCh37
NC_000002.10:g.182110689del	NCBI36
NG_021178.1:g.124397del
NG_050623.1:g.85826del
NG_021178.2:g.124397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.*473del (CERKL)	ENSP00000508396.1:n.*473del
ENST00000397033.7:c.*2190del (ITGA4) MANE Select	ENSP00000380227.2:n.*2190del
ENST00000410087.8:c.*473del (CERKL) MANE Select	ENSP00000386725.3:n.*473del
ENST00000409440.7:c.*473del (CERKL)	ENSP00000387080.3:n.*473del
ENST00000410087.7:c.*473del (CERKL)	ENSP00000386725.3:n.*473del
NM_000885.4:c.*2190del (ITGA4)	NP_000876.3:n.*2190del
NM_000885.5:c.*2190del (ITGA4)	NP_000876.3:n.*2190del
NM_001030311.2:c.*473del (CERKL)	NP_001025482.1:n.*473del
NM_001030312.2:c.*473del (CERKL)	NP_001025483.1:n.*473del
NM_001030313.2:c.*473del (CERKL)	NP_001025484.1:n.*473del
NM_001160277.1:c.*473del (CERKL)	NP_001153749.1:n.*473del
NM_201548.4:c.*473del (CERKL)	NP_963842.1:n.*473del
NR_027689.1:n.1977del (CERKL)
NR_027690.1:n.2109del (CERKL)
NM_000885.6:c.*2190del (ITGA4) MANE Select	NP_000876.3:n.*2190del
NM_201548.5:c.*473del (CERKL) MANE Select	NP_963842.1:n.*473del
NM_001030311.3:c.*473del (CERKL)	NP_001025482.1:n.*473del
NM_001030312.3:c.*473del (CERKL)	NP_001025483.1:n.*473del
NM_001030313.3:c.*473del (CERKL)	NP_001025484.1:n.*473del
NM_001160277.2:c.*473del (CERKL)	NP_001153749.1:n.*473del
NR_027689.2:n.1975del (CERKL)
NR_027690.2:n.2107del (CERKL)