Canonical Allele Identifier: CA2806037465
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150889_16150890insTT , CM000678.2:g.16150889_16150890insTT GRCh38
NC_000016.9:g.16244746_16244747insTT , CM000678.1:g.16244746_16244747insTT GRCh37
NC_000016.8:g.16152247_16152248insTT NCBI36
NG_007558.2:g.77582_77583insAA
NG_007558.3:g.77728_77729insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-118_*381-117insAA ENSP00000483331.2:n.*381-118_*381-117insAA
ENST00000205557.12:c.4209-118_4209-117insAA MANE Select ENSP00000205557.7:n.4209-118_4209-117insAA
ENST00000640696.1:c.1023-118_1023-117insAA ENSP00000492197.1:n.1023-118_1023-117insAA
ENST00000205557.11:c.4209-118_4209-117insAA ENSP00000205557.7:n.4209-118_4209-117insAA
ENST00000456970.6:c.3834-118_3834-117insAA ENSP00000405002.2:n.3834-118_3834-117insAA
ENST00000576204.5:n.1072-118_1072-117insAA
ENST00000622290.4:c.*1418-118_*1418-117insAA ENSP00000483331.1:n.*1418-118_*1418-117insAA
NM_001171.5:c.4209-118_4209-117insAA NP_001162.4:n.4209-118_4209-117insAA
XM_011522479.1:c.4176-118_4176-117insAA XP_011520781.1:n.4176-118_4176-117insAA
XM_011522480.1:c.3867-118_3867-117insAA XP_011520782.1:n.3867-118_3867-117insAA
XM_011522481.1:c.3867-118_3867-117insAA XP_011520783.1:n.3867-118_3867-117insAA
XR_933134.1:n.538+6599_538+6600insTT
NM_001351800.1:c.3867-118_3867-117insAA NP_001338729.1:n.3867-118_3867-117insAA
NR_147784.1:n.3871-118_3871-117insAA
XM_011522479.2:c.4176-118_4176-117insAA XP_011520781.1:n.4176-118_4176-117insAA
XM_011522481.3:c.3867-118_3867-117insAA XP_011520783.1:n.3867-118_3867-117insAA
XM_017023212.1:c.4041-118_4041-117insAA XP_016878701.1:n.4041-118_4041-117insAA
XM_024450261.1:c.4245-118_4245-117insAA XP_024306029.1:n.4245-118_4245-117insAA
NM_001171.6:c.4209-118_4209-117insAA MANE Select NP_001162.5:n.4209-118_4209-117insAA