Canonical Allele Identifier: CA2806038208

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165654_16165670dup , CM000678.2:g.16165654_16165670dup	GRCh38
NC_000016.9:g.16259511_16259527dup , CM000678.1:g.16259511_16259527dup	GRCh37
NC_000016.8:g.16167012_16167028dup	NCBI36
NG_007558.2:g.62810_62826dup
NG_007558.3:g.62956_62972dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3267_3283dup	ENSP00000483331.2:p.Phe1095TrpfsTer24
ENST00000205557.12:c.3267_3283dup MANE Select	ENSP00000205557.7:p.Phe1095TrpfsTer24
ENST00000640696.1:c.281_297dup
ENST00000205557.11:c.3267_3283dup	ENSP00000205557.7:p.Phe1095TrpfsTer24
ENST00000456970.6:c.3092_3108dup	ENSP00000405002.2:n.3092_3108dup
ENST00000622290.4:c.*476_*492dup	ENSP00000483331.1:n.*476_*492dup
NM_001171.5:c.3267_3283dup	NP_001162.4:p.Phe1095TrpfsTer24
XM_011522479.1:c.3234_3250dup	XP_011520781.1:p.Phe1084TrpfsTer24
XM_011522480.1:c.2925_2941dup	XP_011520782.1:p.Phe981TrpfsTer24
XM_011522481.1:c.2925_2941dup	XP_011520783.1:p.Phe981TrpfsTer24
XR_932836.1:n.3502_3518dup
XR_932837.1:n.3503_3519dup
XR_932838.1:n.3503_3519dup
NM_001351800.1:c.2925_2941dup	NP_001338729.1:p.Phe981TrpfsTer24
NR_147784.1:n.3129_3145dup
XM_011522479.2:c.3234_3250dup	XP_011520781.1:p.Phe1084TrpfsTer24
XM_011522481.3:c.2925_2941dup	XP_011520783.1:p.Phe981TrpfsTer24
XM_017023212.1:c.3099_3115dup	XP_016878701.1:p.Phe1039TrpfsTer24
XM_017023214.1:c.3267_3283dup	XP_016878703.1:p.Phe1095TrpfsTer?
XM_024450261.1:c.3303_3319dup	XP_024306029.1:p.Phe1107TrpfsTer24
XR_932836.2:n.3448_3464dup
XR_932837.3:n.3448_3464dup
XR_932838.3:n.3448_3464dup
NM_001171.6:c.3267_3283dup MANE Select	NP_001162.5:p.Phe1095TrpfsTer24