Canonical Allele Identifier: CA2631958831

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154721-C-CAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154724_16154727dup , CM000678.2:g.16154724_16154727dup	GRCh38
NC_000016.9:g.16248581_16248584dup , CM000678.1:g.16248581_16248584dup	GRCh37
NC_000016.8:g.16156082_16156085dup	NCBI36
NG_007558.2:g.73747_73750dup
NG_007558.3:g.73893_73896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*283_*286dup	ENSP00000483331.2:n.*283_*286dup
ENST00000205557.12:c.4111_4114dup MANE Select	ENSP00000205557.7:p.Trp1372TyrfsTer27
ENST00000640696.1:c.925_928dup	ENSP00000492197.1:p.Trp310TyrfsTer27
ENST00000205557.11:c.4111_4114dup	ENSP00000205557.7:p.Trp1372TyrfsTer27
ENST00000456970.6:c.3736_3739dup	ENSP00000405002.2:n.3736_3739dup
ENST00000576204.5:n.974_977dup
ENST00000622290.4:c.*1320_*1323dup	ENSP00000483331.1:n.*1320_*1323dup
NM_001171.5:c.4111_4114dup	NP_001162.4:p.Trp1372TyrfsTer27
XM_011522479.1:c.4078_4081dup	XP_011520781.1:p.Trp1361TyrfsTer27
XM_011522480.1:c.3769_3772dup	XP_011520782.1:p.Trp1258TyrfsTer27
XM_011522481.1:c.3769_3772dup	XP_011520783.1:p.Trp1258TyrfsTer27
XR_933134.1:n.539-5057_539-5054dup
NM_001351800.1:c.3769_3772dup	NP_001338729.1:p.Trp1258TyrfsTer27
NR_147784.1:n.3773_3776dup
XM_011522479.2:c.4078_4081dup	XP_011520781.1:p.Trp1361TyrfsTer27
XM_011522481.3:c.3769_3772dup	XP_011520783.1:p.Trp1258TyrfsTer27
XM_017023212.1:c.3943_3946dup	XP_016878701.1:p.Trp1316TyrfsTer27
XM_024450261.1:c.4147_4150dup	XP_024306029.1:p.Trp1384TyrfsTer27
NM_001171.6:c.4111_4114dup MANE Select	NP_001162.5:p.Trp1372TyrfsTer27