Canonical Allele Identifier: CA11130564
Community Standard Title: NM_000888.5(ITGB6):c.2269-114T>A
Gene: ITGB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.160101948A>T , CM000664.2:g.160101948A>T GRCh38
NC_000002.11:g.160958459A>T , CM000664.1:g.160958459A>T GRCh37
NC_000002.10:g.160666705A>T NCBI36
NG_042041.1:g.103366T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000888.5:c.2269-114T>A MANE Select NP_000879.2:n.2269-114T>A
ENST00000283249.7:c.2269-114T>A MANE Select ENSP00000283249.2:n.2269-114T>A
NM_000888.4:c.2269-114T>A NP_000879.2:n.2269-114T>A
NM_001282353.1:c.2269-114T>A NP_001269282.1:n.2269-114T>A
NM_001282353.2:c.2269-114T>A NP_001269282.1:n.2269-114T>A
NM_001282354.1:c.1984-114T>A NP_001269283.1:n.1984-114T>A
NM_001282354.2:c.1984-114T>A NP_001269283.1:n.1984-114T>A
NM_001282355.1:c.1948-114T>A NP_001269284.1:n.1948-114T>A
NM_001282355.2:c.1948-114T>A NP_001269284.1:n.1948-114T>A
NM_001282388.1:c.2143-114T>A NP_001269317.1:n.2143-114T>A
NM_001282388.2:c.2143-114T>A NP_001269317.1:n.2143-114T>A
NM_001282389.1:c.2050-114T>A NP_001269318.1:n.2050-114T>A
NM_001282389.2:c.2050-114T>A NP_001269318.1:n.2050-114T>A
NM_001282390.1:c.1855-114T>A NP_001269319.1:n.1855-114T>A
NM_001282390.2:c.1855-114T>A NP_001269319.1:n.1855-114T>A
ENST00000283249.6:c.2269-114T>A ENSP00000283249.2:n.2269-114T>A
ENST00000409583.5:c.*1883-114T>A ENSP00000386477.1:n.*1883-114T>A
ENST00000409872.1:c.2269-114T>A ENSP00000386367.1:n.2269-114T>A
ENST00000409967.6:c.1948-114T>A ENSP00000386828.2:n.1948-114T>A
ENST00000428609.6:c.2143-114T>A ENSP00000408024.2:n.2143-114T>A
ENST00000475438.1:n.199-114T>A
ENST00000620391.4:c.1984-114T>A ENSP00000481183.1:n.1984-114T>A
XR_923525.1:n.1039-39715A>T