Canonical Allele Identifier: CA627595718

Gene: ITGB4

Linked Data

• ClinVar Variation Id: 450544
• ClinVar RCV Id: RCV000521724
• dbSNP Id: rs1480399395
• gnomAD v2: 17-73723495-ACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGC-A
• gnomAD v4: 17-75727414-ACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGC-A
• MyVariant Identifiers: chr17:g.73723497_73723529del (hg19) ; chr17:g.73723496_73723528del (hg19) ; chr17:g.75727416_75727448del (hg38) ; chr17:g.75727415_75727447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75727416_75727448del , CM000679.2:g.75727416_75727448del	GRCh38
NC_000017.10:g.73723497_73723529del , CM000679.1:g.73723497_73723529del	GRCh37
NC_000017.9:g.71235092_71235124del	NCBI36
NG_007372.1:g.10982_11014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.175_207del	ENSP00000400217.2:p.Arg59_Ala69del
ENST00000200181.8:c.175_207del MANE Select	ENSP00000200181.3:p.Arg59_Ala69del
ENST00000200181.7:c.175_207del	ENSP00000200181.3:p.Arg59_Ala69del
ENST00000449880.6:c.175_207del	ENSP00000400217.2:p.Arg59_Ala69del
ENST00000450894.7:c.175_207del	ENSP00000405536.3:p.Arg59_Ala69del
ENST00000579662.5:c.175_207del	ENSP00000463651.1:p.Arg59_Ala69del
ENST00000580542.5:n.240_272del
ENST00000584558.5:n.175_207del
NM_000213.3:c.175_207del	NP_000204.3:p.Arg59_Ala69del
NM_001005619.1:c.175_207del	NP_001005619.1:p.Arg59_Ala69del
NM_001005731.1:c.175_207del	NP_001005731.1:p.Arg59_Ala69del
XM_005257309.2:c.175_207del	XP_005257366.1:p.Arg59_Ala69del
XM_005257311.3:c.175_207del	XP_005257368.1:p.Arg59_Ala69del
XM_005257312.2:c.175_207del	XP_005257369.1:p.Arg59_Ala69del
XM_006721866.2:c.280_312del	XP_006721929.1:p.Arg94_Ala104del
XM_006721867.2:c.280_312del	XP_006721930.1:p.Arg94_Ala104del
XM_006721868.2:c.280_312del	XP_006721931.1:p.Arg94_Ala104del
XM_006721870.2:c.280_312del	XP_006721933.1:p.Arg94_Ala104del
XM_011524751.1:c.280_312del	XP_011523053.1:p.Arg94_Ala104del
NM_000213.4:c.175_207del	NP_000204.3:p.Arg59_Ala69del
NM_001005731.2:c.175_207del	NP_001005731.1:p.Arg59_Ala69del
NM_001321123.1:c.175_207del	NP_001308052.1:p.Arg59_Ala69del
XM_005257311.4:c.175_207del	XP_005257368.1:p.Arg59_Ala69del
XM_006721866.3:c.280_312del	XP_006721929.1:p.Arg94_Ala104del
XM_006721867.3:c.280_312del	XP_006721930.1:p.Arg94_Ala104del
XM_006721868.3:c.280_312del	XP_006721931.1:p.Arg94_Ala104del
XM_006721870.3:c.280_312del	XP_006721933.1:p.Arg94_Ala104del
XM_011524751.2:c.280_312del	XP_011523053.1:p.Arg94_Ala104del
NM_000213.5:c.175_207del MANE Select	NP_000204.3:p.Arg59_Ala69del
NM_001005731.3:c.175_207del	NP_001005731.1:p.Arg59_Ala69del
NM_001321123.2:c.175_207del	NP_001308052.1:p.Arg59_Ala69del