Canonical Allele Identifier: CA2575924803
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16173287_16173292del , CM000678.2:g.16173287_16173292del GRCh38
NC_000016.9:g.16267144_16267149del , CM000678.1:g.16267144_16267149del GRCh37
NC_000016.8:g.16174645_16174650del NCBI36
NG_007558.2:g.55180_55185del
NG_007558.3:g.55326_55331del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2779_2784del ENSP00000483331.2:p.Tyr927_Gly928del
ENST00000205557.12:c.2779_2784del MANE Select ENSP00000205557.7:p.Tyr927_Gly928del
ENST00000205557.11:c.2779_2784del ENSP00000205557.7:p.Tyr927_Gly928del
ENST00000456970.6:c.2604_2609del ENSP00000405002.2:p.Asn868_Ala870delinsLys
ENST00000576683.1:n.266_271del
ENST00000622290.4:c.2604_2609del ENSP00000483331.1:p.Asn868_Ala870delinsLys
NM_001171.5:c.2779_2784del NP_001162.4:p.Tyr927_Gly928del
XM_011522479.1:c.2746_2751del XP_011520781.1:p.Tyr916_Gly917del
XM_011522480.1:c.2437_2442del XP_011520782.1:p.Tyr813_Gly814del
XM_011522481.1:c.2437_2442del XP_011520783.1:p.Tyr813_Gly814del
XR_932836.1:n.3014_3019del
XR_932837.1:n.3015_3020del
XR_932838.1:n.3015_3020del
NM_001351800.1:c.2437_2442del NP_001338729.1:p.Tyr813_Gly814del
NR_147784.1:n.2641_2646del
XM_011522479.2:c.2746_2751del XP_011520781.1:p.Tyr916_Gly917del
XM_011522481.3:c.2437_2442del XP_011520783.1:p.Tyr813_Gly814del
XM_017023212.1:c.2611_2616del XP_016878701.1:p.Tyr871_Gly872del
XM_017023214.1:c.2779_2784del XP_016878703.1:p.Tyr927_Gly928del
XM_024450261.1:c.2815_2820del XP_024306029.1:p.Tyr939_Gly940del
XR_932836.2:n.2960_2965del
XR_932837.3:n.2960_2965del
XR_932838.3:n.2960_2965del
NM_001171.6:c.2779_2784del MANE Select NP_001162.5:p.Tyr927_Gly928del