Canonical Allele Identifier: CA11165517
Community Standard Title: NM_000888.5(ITGB6):c.2101+204C>T
Gene: ITGB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.160111876G>A , CM000664.2:g.160111876G>A GRCh38
NC_000002.11:g.160968387G>A , CM000664.1:g.160968387G>A GRCh37
NC_000002.10:g.160676633G>A NCBI36
NG_042041.1:g.93438C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000888.5:c.2101+204C>T MANE Select NP_000879.2:n.2101+204C>T
ENST00000283249.7:c.2101+204C>T MANE Select ENSP00000283249.2:n.2101+204C>T
NM_000888.4:c.2101+204C>T NP_000879.2:n.2101+204C>T
NM_001282353.1:c.2101+204C>T NP_001269282.1:n.2101+204C>T
NM_001282353.2:c.2101+204C>T NP_001269282.1:n.2101+204C>T
NM_001282354.1:c.1816+204C>T NP_001269283.1:n.1816+204C>T
NM_001282354.2:c.1816+204C>T NP_001269283.1:n.1816+204C>T
NM_001282355.1:c.1780+204C>T NP_001269284.1:n.1780+204C>T
NM_001282355.2:c.1780+204C>T NP_001269284.1:n.1780+204C>T
NM_001282388.1:c.1975+204C>T NP_001269317.1:n.1975+204C>T
NM_001282388.2:c.1975+204C>T NP_001269317.1:n.1975+204C>T
NM_001282389.1:c.1882+204C>T NP_001269318.1:n.1882+204C>T
NM_001282389.2:c.1882+204C>T NP_001269318.1:n.1882+204C>T
NM_001282390.1:c.1687+204C>T NP_001269319.1:n.1687+204C>T
NM_001282390.2:c.1687+204C>T NP_001269319.1:n.1687+204C>T
ENST00000283249.6:c.2101+204C>T ENSP00000283249.2:n.2101+204C>T
ENST00000409583.5:c.*1715+204C>T ENSP00000386477.1:n.*1715+204C>T
ENST00000409872.1:c.2101+204C>T ENSP00000386367.1:n.2101+204C>T
ENST00000409967.6:c.1780+204C>T ENSP00000386828.2:n.1780+204C>T
ENST00000428609.6:c.1975+204C>T ENSP00000408024.2:n.1975+204C>T
ENST00000475438.1:n.31+204C>T
ENST00000620391.4:c.1816+204C>T ENSP00000481183.1:n.1816+204C>T
XR_923525.1:n.1039-29787G>A