Canonical Allele Identifier: CA2210143347
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs2047003564

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169870_16169871del , CM000678.2:g.16169870_16169871del GRCh38
NC_000016.9:g.16263727_16263728del , CM000678.1:g.16263727_16263728del GRCh37
NC_000016.8:g.16171228_16171229del NCBI36
NG_007558.2:g.58602_58603del
NG_007558.3:g.58748_58749del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2788-17_2788-16del ENSP00000483331.2:n.2788-17_2788-16del
ENST00000205557.12:c.2788-17_2788-16del MANE Select ENSP00000205557.7:n.2788-17_2788-16del
ENST00000205557.11:c.2788-17_2788-16del ENSP00000205557.7:n.2788-17_2788-16del
ENST00000456970.6:c.2613-17_2613-16del ENSP00000405002.2:n.2613-17_2613-16del
ENST00000622290.4:c.2613-17_2613-16del ENSP00000483331.1:n.2613-17_2613-16del
NM_001171.5:c.2788-17_2788-16del NP_001162.4:n.2788-17_2788-16del
XM_011522479.1:c.2755-17_2755-16del XP_011520781.1:n.2755-17_2755-16del
XM_011522480.1:c.2446-17_2446-16del XP_011520782.1:n.2446-17_2446-16del
XM_011522481.1:c.2446-17_2446-16del XP_011520783.1:n.2446-17_2446-16del
XR_932836.1:n.3023-17_3023-16del
XR_932837.1:n.3024-17_3024-16del
XR_932838.1:n.3024-17_3024-16del
NM_001351800.1:c.2446-17_2446-16del NP_001338729.1:n.2446-17_2446-16del
NR_147784.1:n.2650-17_2650-16del
XM_011522479.2:c.2755-17_2755-16del XP_011520781.1:n.2755-17_2755-16del
XM_011522481.3:c.2446-17_2446-16del XP_011520783.1:n.2446-17_2446-16del
XM_017023212.1:c.2620-17_2620-16del XP_016878701.1:n.2620-17_2620-16del
XM_017023214.1:c.2788-17_2788-16del XP_016878703.1:n.2788-17_2788-16del
XM_024450261.1:c.2824-17_2824-16del XP_024306029.1:n.2824-17_2824-16del
XR_932836.2:n.2969-17_2969-16del
XR_932837.3:n.2969-17_2969-16del
XR_932838.3:n.2969-17_2969-16del
NM_001171.6:c.2788-17_2788-16del MANE Select NP_001162.5:n.2788-17_2788-16del