Canonical Allele Identifier: CA2289985254
Community Standard Title: NM_001100619.3(CABLES1):c.845+4402G=
Gene: CABLES1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23141009G= , CM000680.2:g.23141009G= GRCh38
NC_000018.9:g.20720973G= , CM000680.1:g.20720973G= GRCh37
NC_000018.8:g.18974971G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001100619.3:c.845+4402G= MANE Select NP_001094089.1:n.845+4402G=
ENST00000256925.12:c.845+4402G= MANE Select ENSP00000256925.7:n.845+4402G=
NM_001100619.2:c.845+4402G= NP_001094089.1:n.845+4402G=
NM_001256438.1:c.-137+6339G= NP_001243367.1:n.-137+6339G=
NR_023359.1:n.88+6358G=
NR_023359.2:n.88+6358G=
ENST00000256925.11:c.845+4402G= ENSP00000256925.7:n.845+4402G=
ENST00000400473.6:c.-137+6339G= ENSP00000383321.2:n.-137+6339G=
ENST00000578052.1:n.59+4402G=
ENST00000579963.5:c.-137+6358G= ENSP00000464435.1:n.-137+6358G=
ENST00000580153.5:c.-137+4402G= ENSP00000461994.1:n.-137+4402G=
ENST00000580644.5:n.115+4402G=
ENST00000582882.5:c.184+4402G=
ENST00000583220.5:n.149+4402G=