Canonical Allele Identifier: CA16620606
Gene: ITGB4 HGNC NCBI
GALK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421955
ClinVar RCV Id: RCV000486557
dbSNP Id: rs1064795468
MyVariant Identifiers: chr17:g.73748497_73748510del (hg19) chr17:g.75752416_75752429del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75752416_75752429del , CM000679.2:g.75752416_75752429del GRCh38
NC_000017.10:g.73748497_73748510del , CM000679.1:g.73748497_73748510del GRCh37
NC_000017.9:g.71260092_71260105del NCBI36
NG_007372.1:g.35982_35995del
NG_008079.2:g.17771_17784del

Transcript Alleles

HGVS Amino-acid change
ENST00000449880.7:c.3977-30_3977-17del (ITGB4) ENSP00000400217.2:n.3977-30_3977-17del
ENST00000200181.8:c.3977-30_3977-17del (ITGB4) MANE Select ENSP00000200181.3:n.3977-30_3977-17del
ENST00000200181.7:c.3977-30_3977-17del (ITGB4) ENSP00000200181.3:n.3977-30_3977-17del
ENST00000225614.6:c.*23-692_*23-679del (GALK1) ENSP00000225614.1:n.*23-692_*23-679del
ENST00000449880.6:c.3977-30_3977-17del (ITGB4) ENSP00000400217.2:n.3977-30_3977-17del
ENST00000450894.7:c.3977-30_3977-17del (ITGB4) ENSP00000405536.3:n.3977-30_3977-17del
ENST00000579662.5:c.3977-30_3977-17del (ITGB4) ENSP00000463651.1:n.3977-30_3977-17del
ENST00000582629.1:c.266-5210_266-5197del (ITGB4) ENSP00000463788.1:n.266-5210_266-5197del
ENST00000583327.2:n.220-30_220-17del (ITGB4)
ENST00000589643.1:n.255-692_255-679del (GALK1)
NM_000213.3:c.3977-30_3977-17del (ITGB4) NP_000204.3:n.3977-30_3977-17del
NM_001005619.1:c.3977-30_3977-17del (ITGB4) NP_001005619.1:n.3977-30_3977-17del
NM_001005731.1:c.3977-30_3977-17del (ITGB4) NP_001005731.1:n.3977-30_3977-17del
XM_005257309.2:c.3977-30_3977-17del (ITGB4) XP_005257366.1:n.3977-30_3977-17del
XM_005257311.3:c.3977-30_3977-17del (ITGB4) XP_005257368.1:n.3977-30_3977-17del
XM_005257312.2:c.3977-30_3977-17del (ITGB4) XP_005257369.1:n.3977-30_3977-17del
XM_006721866.2:c.4082-30_4082-17del (ITGB4) XP_006721929.1:n.4082-30_4082-17del
XM_006721867.2:c.4082-30_4082-17del (ITGB4) XP_006721930.1:n.4082-30_4082-17del
XM_006721868.2:c.4082-30_4082-17del (ITGB4) XP_006721931.1:n.4082-30_4082-17del
XM_006721870.2:c.4082-30_4082-17del (ITGB4) XP_006721933.1:n.4082-30_4082-17del
XM_011524751.1:c.4082-30_4082-17del (ITGB4) XP_011523053.1:n.4082-30_4082-17del
XM_011524752.1:c.1922-30_1922-17del (ITGB4) XP_011523054.1:n.1922-30_1922-17del
NM_000213.4:c.3977-30_3977-17del (ITGB4) NP_000204.3:n.3977-30_3977-17del
NM_001005731.2:c.3977-30_3977-17del (ITGB4) NP_001005731.1:n.3977-30_3977-17del
NM_001321123.1:c.3977-30_3977-17del (ITGB4) NP_001308052.1:n.3977-30_3977-17del
XM_005257311.4:c.3977-30_3977-17del (ITGB4) XP_005257368.1:n.3977-30_3977-17del
XM_006721866.3:c.4082-30_4082-17del (ITGB4) XP_006721929.1:n.4082-30_4082-17del
XM_006721867.3:c.4082-30_4082-17del (ITGB4) XP_006721930.1:n.4082-30_4082-17del
XM_006721868.3:c.4082-30_4082-17del (ITGB4) XP_006721931.1:n.4082-30_4082-17del
XM_006721870.3:c.4082-30_4082-17del (ITGB4) XP_006721933.1:n.4082-30_4082-17del
XM_011524751.2:c.4082-30_4082-17del (ITGB4) XP_011523053.1:n.4082-30_4082-17del
XM_011524752.2:c.1922-30_1922-17del (ITGB4) XP_011523054.1:n.1922-30_1922-17del
NM_000213.5:c.3977-30_3977-17del (ITGB4) MANE Select NP_000204.3:n.3977-30_3977-17del
NM_001005731.3:c.3977-30_3977-17del (ITGB4) NP_001005731.1:n.3977-30_3977-17del
NM_001321123.2:c.3977-30_3977-17del (ITGB4) NP_001308052.1:n.3977-30_3977-17del
NM_001381985.1:c.*23-692_*23-679del (GALK1) NP_001368914.1:n.*23-692_*23-679del
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