Canonical Allele Identifier: CA2210135640
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150900_16150907delinsATGGGGTC , CM000678.2:g.16150900_16150907delinsATGGGGTC GRCh38
NC_000016.9:g.16244757_16244764delinsATGGGGTC , CM000678.1:g.16244757_16244764delinsATGGGGTC GRCh37
NC_000016.8:g.16152258_16152265delinsATGGGGTC NCBI36
NG_007558.2:g.77565_77572delinsGACCCCAT
NG_007558.3:g.77711_77718delinsGACCCCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-135_*381-128delinsGACCCCAT ENSP00000483331.2:n.*381-135_*381-128delinsGACCCCAT
ENST00000205557.12:c.4209-135_4209-128delinsGACCCCAT MANE Select ENSP00000205557.7:n.4209-135_4209-128delinsGACCCCAT
ENST00000640696.1:c.1023-135_1023-128delinsGACCCCAT ENSP00000492197.1:n.1023-135_1023-128delinsGACCCCAT
ENST00000205557.11:c.4209-135_4209-128delinsGACCCCAT ENSP00000205557.7:n.4209-135_4209-128delinsGACCCCAT
ENST00000456970.6:c.3834-135_3834-128delinsGACCCCAT ENSP00000405002.2:n.3834-135_3834-128delinsGACCCCAT
ENST00000576204.5:n.1072-135_1072-128delinsGACCCCAT
ENST00000622290.4:c.*1418-135_*1418-128delinsGACCCCAT ENSP00000483331.1:n.*1418-135_*1418-128delinsGACCCCAT
NM_001171.5:c.4209-135_4209-128delinsGACCCCAT NP_001162.4:n.4209-135_4209-128delinsGACCCCAT
XM_011522479.1:c.4176-135_4176-128delinsGACCCCAT XP_011520781.1:n.4176-135_4176-128delinsGACCCCAT
XM_011522480.1:c.3867-135_3867-128delinsGACCCCAT XP_011520782.1:n.3867-135_3867-128delinsGACCCCAT
XM_011522481.1:c.3867-135_3867-128delinsGACCCCAT XP_011520783.1:n.3867-135_3867-128delinsGACCCCAT
XR_933134.1:n.538+6610_538+6617delinsATGGGGTC
NM_001351800.1:c.3867-135_3867-128delinsGACCCCAT NP_001338729.1:n.3867-135_3867-128delinsGACCCCAT
NR_147784.1:n.3871-135_3871-128delinsGACCCCAT
XM_011522479.2:c.4176-135_4176-128delinsGACCCCAT XP_011520781.1:n.4176-135_4176-128delinsGACCCCAT
XM_011522481.3:c.3867-135_3867-128delinsGACCCCAT XP_011520783.1:n.3867-135_3867-128delinsGACCCCAT
XM_017023212.1:c.4041-135_4041-128delinsGACCCCAT XP_016878701.1:n.4041-135_4041-128delinsGACCCCAT
XM_024450261.1:c.4245-135_4245-128delinsGACCCCAT XP_024306029.1:n.4245-135_4245-128delinsGACCCCAT
NM_001171.6:c.4209-135_4209-128delinsGACCCCAT MANE Select NP_001162.5:n.4209-135_4209-128delinsGACCCCAT