Canonical Allele Identifier: CA2210154965
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16201862_16201866delinsTAAGG , CM000678.2:g.16201862_16201866delinsTAAGG GRCh38
NC_000016.9:g.16295719_16295723delinsTAAGG , CM000678.1:g.16295719_16295723delinsTAAGG GRCh37
NC_000016.8:g.16203220_16203224delinsTAAGG NCBI36
NG_007558.2:g.26606_26610delinsCCTTA
NG_007558.3:g.26752_26756delinsCCTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1176+135_1176+139delinsCCTTA ENSP00000507301.1:n.1176+135_1176+139delinsCCTTA
ENST00000622290.5:c.1176+135_1176+139delinsCCTTA ENSP00000483331.2:n.1176+135_1176+139delinsCCTTA
ENST00000205557.12:c.1176+135_1176+139delinsCCTTA MANE Select ENSP00000205557.7:n.1176+135_1176+139delinsCCTTA
ENST00000205557.11:c.1176+135_1176+139delinsCCTTA ENSP00000205557.7:n.1176+135_1176+139delinsCCTTA
ENST00000456970.6:c.1176+135_1176+139delinsCCTTA ENSP00000405002.2:n.1176+135_1176+139delinsCCTTA
ENST00000574094.5:n.1272+135_1272+139delinsCCTTA
ENST00000622290.4:c.1176+135_1176+139delinsCCTTA ENSP00000483331.1:n.1176+135_1176+139delinsCCTTA
NM_001171.5:c.1176+135_1176+139delinsCCTTA NP_001162.4:n.1176+135_1176+139delinsCCTTA
XM_011522479.1:c.1176+135_1176+139delinsCCTTA XP_011520781.1:n.1176+135_1176+139delinsCCTTA
XM_011522480.1:c.834+135_834+139delinsCCTTA XP_011520782.1:n.834+135_834+139delinsCCTTA
XM_011522481.1:c.834+135_834+139delinsCCTTA XP_011520783.1:n.834+135_834+139delinsCCTTA
XM_011522482.1:c.1176+135_1176+139delinsCCTTA XP_011520784.1:n.1176+135_1176+139delinsCCTTA
XR_932836.1:n.1411+135_1411+139delinsCCTTA
XR_932837.1:n.1412+135_1412+139delinsCCTTA
XR_932838.1:n.1412+135_1412+139delinsCCTTA
NM_001351800.1:c.834+135_834+139delinsCCTTA NP_001338729.1:n.834+135_834+139delinsCCTTA
NR_147784.1:n.1213+135_1213+139delinsCCTTA
XM_011522479.2:c.1176+135_1176+139delinsCCTTA XP_011520781.1:n.1176+135_1176+139delinsCCTTA
XM_011522481.3:c.834+135_834+139delinsCCTTA XP_011520783.1:n.834+135_834+139delinsCCTTA
XM_011522482.3:c.1176+135_1176+139delinsCCTTA XP_011520784.1:n.1176+135_1176+139delinsCCTTA
XM_017023212.1:c.1176+135_1176+139delinsCCTTA XP_016878701.1:n.1176+135_1176+139delinsCCTTA
XM_017023214.1:c.1176+135_1176+139delinsCCTTA XP_016878703.1:n.1176+135_1176+139delinsCCTTA
XM_024450261.1:c.1212+135_1212+139delinsCCTTA XP_024306029.1:n.1212+135_1212+139delinsCCTTA
XR_932836.2:n.1357+135_1357+139delinsCCTTA
XR_932837.3:n.1357+135_1357+139delinsCCTTA
XR_932838.3:n.1357+135_1357+139delinsCCTTA
NM_001171.6:c.1176+135_1176+139delinsCCTTA MANE Select NP_001162.5:n.1176+135_1176+139delinsCCTTA