Canonical Allele Identifier: CA2210143357
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169881_16169883delinsCAG , CM000678.2:g.16169881_16169883delinsCAG GRCh38
NC_000016.9:g.16263738_16263740delinsCAG , CM000678.1:g.16263738_16263740delinsCAG GRCh37
NC_000016.8:g.16171239_16171241delinsCAG NCBI36
NG_007558.2:g.58589_58591delinsCTG
NG_007558.3:g.58735_58737delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2788-30_2788-28delinsCTG ENSP00000483331.2:n.2788-30_2788-28delinsCTG
ENST00000205557.12:c.2788-30_2788-28delinsCTG MANE Select ENSP00000205557.7:n.2788-30_2788-28delinsCTG
ENST00000205557.11:c.2788-30_2788-28delinsCTG ENSP00000205557.7:n.2788-30_2788-28delinsCTG
ENST00000456970.6:c.2613-30_2613-28delinsCTG ENSP00000405002.2:n.2613-30_2613-28delinsCTG
ENST00000622290.4:c.2613-30_2613-28delinsCTG ENSP00000483331.1:n.2613-30_2613-28delinsCTG
NM_001171.5:c.2788-30_2788-28delinsCTG NP_001162.4:n.2788-30_2788-28delinsCTG
XM_011522479.1:c.2755-30_2755-28delinsCTG XP_011520781.1:n.2755-30_2755-28delinsCTG
XM_011522480.1:c.2446-30_2446-28delinsCTG XP_011520782.1:n.2446-30_2446-28delinsCTG
XM_011522481.1:c.2446-30_2446-28delinsCTG XP_011520783.1:n.2446-30_2446-28delinsCTG
XR_932836.1:n.3023-30_3023-28delinsCTG
XR_932837.1:n.3024-30_3024-28delinsCTG
XR_932838.1:n.3024-30_3024-28delinsCTG
NM_001351800.1:c.2446-30_2446-28delinsCTG NP_001338729.1:n.2446-30_2446-28delinsCTG
NR_147784.1:n.2650-30_2650-28delinsCTG
XM_011522479.2:c.2755-30_2755-28delinsCTG XP_011520781.1:n.2755-30_2755-28delinsCTG
XM_011522481.3:c.2446-30_2446-28delinsCTG XP_011520783.1:n.2446-30_2446-28delinsCTG
XM_017023212.1:c.2620-30_2620-28delinsCTG XP_016878701.1:n.2620-30_2620-28delinsCTG
XM_017023214.1:c.2788-30_2788-28delinsCTG XP_016878703.1:n.2788-30_2788-28delinsCTG
XM_024450261.1:c.2824-30_2824-28delinsCTG XP_024306029.1:n.2824-30_2824-28delinsCTG
XR_932836.2:n.2969-30_2969-28delinsCTG
XR_932837.3:n.2969-30_2969-28delinsCTG
XR_932838.3:n.2969-30_2969-28delinsCTG
NM_001171.6:c.2788-30_2788-28delinsCTG MANE Select NP_001162.5:n.2788-30_2788-28delinsCTG