Canonical Allele Identifier: CA248914

Gene: ITGB6

Linked Data

• ClinVar Variation Id: 218475
• ClinVar RCV Id: RCV000202717 ; RCV001539607 ; RCV001730587
• dbSNP Id: rs5835793
• ExAC: 2:160958349 GA / G
• gnomAD v2: 2-160958349-GA-G
• gnomAD v3: 2-160101838-GA-G
• gnomAD v4: 2-160101838-GA-G
• COSMIC: COSM5895368
• MyVariant Identifiers: chr2:g.160958352del (hg19) ; chr2:g.160958351del (hg19) ; chr2:g.160958350del (hg19) ; chr2:g.160101841del (hg38) ; chr2:g.160101840del (hg38) ; chr2:g.160101839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.160101850del , CM000664.2:g.160101850del	GRCh38
NC_000002.11:g.160958361del , CM000664.1:g.160958361del	GRCh37
NC_000002.10:g.160666607del	NCBI36
NG_042041.1:g.103475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283249.7:c.2269-5del MANE Select	ENSP00000283249.2:n.2269-5del
ENST00000283249.6:c.2269-5del	ENSP00000283249.2:n.2269-5del
ENST00000409583.5:c.*1883-5del	ENSP00000386477.1:n.*1883-5del
ENST00000409872.1:c.2269-5del	ENSP00000386367.1:n.2269-5del
ENST00000409967.6:c.1948-5del	ENSP00000386828.2:n.1948-5del
ENST00000428609.6:c.2143-5del	ENSP00000408024.2:n.2143-5del
ENST00000475438.1:n.199-5del
ENST00000620391.4:c.1984-5del	ENSP00000481183.1:n.1984-5del
NM_000888.4:c.2269-5del	NP_000879.2:n.2269-5del
NM_001282353.1:c.2269-5del	NP_001269282.1:n.2269-5del
NM_001282354.1:c.1984-5del	NP_001269283.1:n.1984-5del
NM_001282355.1:c.1948-5del	NP_001269284.1:n.1948-5del
NM_001282388.1:c.2143-5del	NP_001269317.1:n.2143-5del
NM_001282389.1:c.2050-5del	NP_001269318.1:n.2050-5del
NM_001282390.1:c.1855-5del	NP_001269319.1:n.1855-5del
XR_923525.1:n.1039-39813del
NM_000888.5:c.2269-5del MANE Select	NP_000879.2:n.2269-5del
NM_001282353.2:c.2269-5del	NP_001269282.1:n.2269-5del
NM_001282355.2:c.1948-5del	NP_001269284.1:n.1948-5del
NM_001282388.2:c.2143-5del	NP_001269317.1:n.2143-5del
NM_001282389.2:c.2050-5del	NP_001269318.1:n.2050-5del
NM_001282390.2:c.1855-5del	NP_001269319.1:n.1855-5del
NM_001282354.2:c.1984-5del	NP_001269283.1:n.1984-5del