Canonical Allele Identifier: CA2210136361
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16162987_16162991delinsTCCTA , CM000678.2:g.16162987_16162991delinsTCCTA GRCh38
NC_000016.9:g.16256844_16256848delinsTCCTA , CM000678.1:g.16256844_16256848delinsTCCTA GRCh37
NC_000016.8:g.16164345_16164349delinsTCCTA NCBI36
NG_007558.2:g.65481_65485delinsTAGGA
NG_007558.3:g.65627_65631delinsTAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3506+2_3506+6delinsTAGGA ENSP00000483331.2:n.3506+2_3506+6delinsTAGGA
ENST00000205557.12:c.3506+2_3506+6delinsTAGGA MANE Select ENSP00000205557.7:n.3506+2_3506+6delinsTAGGA
ENST00000640696.1:c.321-1427_321-1423delinsTAGGA ENSP00000492197.1:n.321-1427_321-1423delinsTAGGA
ENST00000205557.11:c.3506+2_3506+6delinsTAGGA ENSP00000205557.7:n.3506+2_3506+6delinsTAGGA
ENST00000456970.6:c.3132-1427_3132-1423delinsTAGGA ENSP00000405002.2:n.3132-1427_3132-1423delinsTAGGA
ENST00000622290.4:c.*715+2_*715+6delinsTAGGA ENSP00000483331.1:n.*715+2_*715+6delinsTAGGA
NM_001171.5:c.3506+2_3506+6delinsTAGGA NP_001162.4:n.3506+2_3506+6delinsTAGGA
XM_011522479.1:c.3473+2_3473+6delinsTAGGA XP_011520781.1:n.3473+2_3473+6delinsTAGGA
XM_011522480.1:c.3164+2_3164+6delinsTAGGA XP_011520782.1:n.3164+2_3164+6delinsTAGGA
XM_011522481.1:c.3164+2_3164+6delinsTAGGA XP_011520783.1:n.3164+2_3164+6delinsTAGGA
XR_932836.1:n.3741+2_3741+6delinsTAGGA
XR_932837.1:n.3543-1427_3543-1423delinsTAGGA
XR_932838.1:n.3543-1427_3543-1423delinsTAGGA
XR_933133.1:n.407+144_407+148delinsTCCTA
XR_933134.1:n.754+144_754+148delinsTCCTA
NM_001351800.1:c.3164+2_3164+6delinsTAGGA NP_001338729.1:n.3164+2_3164+6delinsTAGGA
NR_147784.1:n.3169-1427_3169-1423delinsTAGGA
XM_011522479.2:c.3473+2_3473+6delinsTAGGA XP_011520781.1:n.3473+2_3473+6delinsTAGGA
XM_011522481.3:c.3164+2_3164+6delinsTAGGA XP_011520783.1:n.3164+2_3164+6delinsTAGGA
XM_017023212.1:c.3338+2_3338+6delinsTAGGA XP_016878701.1:n.3338+2_3338+6delinsTAGGA
XM_017023214.1:c.3307-1427_3307-1423delinsTAGGA XP_016878703.1:n.3307-1427_3307-1423delinsTAGGA
XM_024450261.1:c.3542+2_3542+6delinsTAGGA XP_024306029.1:n.3542+2_3542+6delinsTAGGA
XR_932836.2:n.3687+2_3687+6delinsTAGGA
XR_932837.3:n.3488-1427_3488-1423delinsTAGGA
XR_932838.3:n.3488-1427_3488-1423delinsTAGGA
NM_001171.6:c.3506+2_3506+6delinsTAGGA MANE Select NP_001162.5:n.3506+2_3506+6delinsTAGGA