Canonical Allele Identifier: CA2210136364
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16162987_16162988delinsTC , CM000678.2:g.16162987_16162988delinsTC GRCh38
NC_000016.9:g.16256844_16256845delinsTC , CM000678.1:g.16256844_16256845delinsTC GRCh37
NC_000016.8:g.16164345_16164346delinsTC NCBI36
NG_007558.2:g.65484_65485delinsGA
NG_007558.3:g.65630_65631delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3506+5_3506+6delinsGA ENSP00000483331.2:n.3506+5_3506+6delinsGA
ENST00000205557.12:c.3506+5_3506+6delinsGA MANE Select ENSP00000205557.7:n.3506+5_3506+6delinsGA
ENST00000640696.1:c.321-1424_321-1423delinsGA ENSP00000492197.1:n.321-1424_321-1423delinsGA
ENST00000205557.11:c.3506+5_3506+6delinsGA ENSP00000205557.7:n.3506+5_3506+6delinsGA
ENST00000456970.6:c.3132-1424_3132-1423delinsGA ENSP00000405002.2:n.3132-1424_3132-1423delinsGA
ENST00000622290.4:c.*715+5_*715+6delinsGA ENSP00000483331.1:n.*715+5_*715+6delinsGA
NM_001171.5:c.3506+5_3506+6delinsGA NP_001162.4:n.3506+5_3506+6delinsGA
XM_011522479.1:c.3473+5_3473+6delinsGA XP_011520781.1:n.3473+5_3473+6delinsGA
XM_011522480.1:c.3164+5_3164+6delinsGA XP_011520782.1:n.3164+5_3164+6delinsGA
XM_011522481.1:c.3164+5_3164+6delinsGA XP_011520783.1:n.3164+5_3164+6delinsGA
XR_932836.1:n.3741+5_3741+6delinsGA
XR_932837.1:n.3543-1424_3543-1423delinsGA
XR_932838.1:n.3543-1424_3543-1423delinsGA
XR_933133.1:n.407+144_407+145delinsTC
XR_933134.1:n.754+144_754+145delinsTC
NM_001351800.1:c.3164+5_3164+6delinsGA NP_001338729.1:n.3164+5_3164+6delinsGA
NR_147784.1:n.3169-1424_3169-1423delinsGA
XM_011522479.2:c.3473+5_3473+6delinsGA XP_011520781.1:n.3473+5_3473+6delinsGA
XM_011522481.3:c.3164+5_3164+6delinsGA XP_011520783.1:n.3164+5_3164+6delinsGA
XM_017023212.1:c.3338+5_3338+6delinsGA XP_016878701.1:n.3338+5_3338+6delinsGA
XM_017023214.1:c.3307-1424_3307-1423delinsGA XP_016878703.1:n.3307-1424_3307-1423delinsGA
XM_024450261.1:c.3542+5_3542+6delinsGA XP_024306029.1:n.3542+5_3542+6delinsGA
XR_932836.2:n.3687+5_3687+6delinsGA
XR_932837.3:n.3488-1424_3488-1423delinsGA
XR_932838.3:n.3488-1424_3488-1423delinsGA
NM_001171.6:c.3506+5_3506+6delinsGA MANE Select NP_001162.5:n.3506+5_3506+6delinsGA