Canonical Allele Identifier: CA2210135491
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150805_16150806delinsGC , CM000678.2:g.16150805_16150806delinsGC GRCh38
NC_000016.9:g.16244662_16244663delinsGC , CM000678.1:g.16244662_16244663delinsGC GRCh37
NC_000016.8:g.16152163_16152164delinsGC NCBI36
NG_007558.2:g.77666_77667delinsGC
NG_007558.3:g.77812_77813delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-34_*381-33delinsGC ENSP00000483331.2:n.*381-34_*381-33delinsGC
ENST00000205557.12:c.4209-34_4209-33delinsGC MANE Select ENSP00000205557.7:n.4209-34_4209-33delinsGC
ENST00000640696.1:c.1023-34_1023-33delinsGC ENSP00000492197.1:n.1023-34_1023-33delinsGC
ENST00000205557.11:c.4209-34_4209-33delinsGC ENSP00000205557.7:n.4209-34_4209-33delinsGC
ENST00000456970.6:c.3834-34_3834-33delinsGC ENSP00000405002.2:n.3834-34_3834-33delinsGC
ENST00000576204.5:n.1072-34_1072-33delinsGC
ENST00000622290.4:c.*1418-34_*1418-33delinsGC ENSP00000483331.1:n.*1418-34_*1418-33delinsGC
NM_001171.5:c.4209-34_4209-33delinsGC NP_001162.4:n.4209-34_4209-33delinsGC
XM_011522479.1:c.4176-34_4176-33delinsGC XP_011520781.1:n.4176-34_4176-33delinsGC
XM_011522480.1:c.3867-34_3867-33delinsGC XP_011520782.1:n.3867-34_3867-33delinsGC
XM_011522481.1:c.3867-34_3867-33delinsGC XP_011520783.1:n.3867-34_3867-33delinsGC
XR_933134.1:n.538+6515_538+6516delinsGC
NM_001351800.1:c.3867-34_3867-33delinsGC NP_001338729.1:n.3867-34_3867-33delinsGC
NR_147784.1:n.3871-34_3871-33delinsGC
XM_011522479.2:c.4176-34_4176-33delinsGC XP_011520781.1:n.4176-34_4176-33delinsGC
XM_011522481.3:c.3867-34_3867-33delinsGC XP_011520783.1:n.3867-34_3867-33delinsGC
XM_017023212.1:c.4041-34_4041-33delinsGC XP_016878701.1:n.4041-34_4041-33delinsGC
XM_024450261.1:c.4245-34_4245-33delinsGC XP_024306029.1:n.4245-34_4245-33delinsGC
NM_001171.6:c.4209-34_4209-33delinsGC MANE Select NP_001162.5:n.4209-34_4209-33delinsGC