Canonical Allele Identifier: CA2631961921

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150218-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150218_16150219insA , CM000678.2:g.16150218_16150219insA	GRCh38
NC_000016.9:g.16244075_16244076insA , CM000678.1:g.16244075_16244076insA	GRCh37
NC_000016.8:g.16151576_16151577insA	NCBI36
NG_007558.2:g.78253_78254insT
NG_007558.3:g.78399_78400insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*598_*599insT	ENSP00000483331.2:n.*598_*599insT
ENST00000205557.12:c.4426_4427insT MANE Select	ENSP00000205557.7:p.Gln1476LeufsTer?
ENST00000640696.1:c.1240_1241insT	ENSP00000492197.1:p.Gln414LeufsTer?
ENST00000205557.11:c.4426_4427insT	ENSP00000205557.7:p.Gln1476LeufsTer?
ENST00000456970.6:c.4051_4052insT	ENSP00000405002.2:n.4051_4052insT
ENST00000576204.5:n.1289_1290insT
ENST00000622290.4:c.*1635_*1636insT	ENSP00000483331.1:n.*1635_*1636insT
NM_001171.5:c.4426_4427insT	NP_001162.4:p.Gln1476LeufsTer?
XM_011522479.1:c.4393_4394insT	XP_011520781.1:p.Gln1465LeufsTer?
XM_011522480.1:c.4084_4085insT	XP_011520782.1:p.Gln1362LeufsTer?
XM_011522481.1:c.4084_4085insT	XP_011520783.1:p.Gln1362LeufsTer?
XR_933134.1:n.538+5928_538+5929insA
NM_001351800.1:c.4084_4085insT	NP_001338729.1:p.Gln1362LeufsTer?
NR_147784.1:n.4088_4089insT
XM_011522479.2:c.4393_4394insT	XP_011520781.1:p.Gln1465LeufsTer?
XM_011522481.3:c.4084_4085insT	XP_011520783.1:p.Gln1362LeufsTer?
XM_017023212.1:c.4258_4259insT	XP_016878701.1:p.Gln1420LeufsTer?
XM_024450261.1:c.4462_4463insT	XP_024306029.1:p.Gln1488LeufsTer?
NM_001171.6:c.4426_4427insT MANE Select	NP_001162.5:p.Gln1476LeufsTer?