Canonical Allele Identifier: CA2806037816
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163262_16163271del , CM000678.2:g.16163262_16163271del GRCh38
NC_000016.9:g.16257119_16257128del , CM000678.1:g.16257119_16257128del GRCh37
NC_000016.8:g.16164620_16164629del NCBI36
NG_007558.2:g.65203_65212del
NG_007558.3:g.65349_65358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3307-77_3307-68del ENSP00000483331.2:n.3307-77_3307-68del
ENST00000205557.12:c.3307-77_3307-68del MANE Select ENSP00000205557.7:n.3307-77_3307-68del
ENST00000640696.1:c.321-1705_321-1696del ENSP00000492197.1:n.321-1705_321-1696del
ENST00000205557.11:c.3307-77_3307-68del ENSP00000205557.7:n.3307-77_3307-68del
ENST00000456970.6:c.3132-1705_3132-1696del ENSP00000405002.2:n.3132-1705_3132-1696del
ENST00000622290.4:c.*516-77_*516-68del ENSP00000483331.1:n.*516-77_*516-68del
NM_001171.5:c.3307-77_3307-68del NP_001162.4:n.3307-77_3307-68del
XM_011522479.1:c.3274-77_3274-68del XP_011520781.1:n.3274-77_3274-68del
XM_011522480.1:c.2965-77_2965-68del XP_011520782.1:n.2965-77_2965-68del
XM_011522481.1:c.2965-77_2965-68del XP_011520783.1:n.2965-77_2965-68del
XR_932836.1:n.3542-77_3542-68del
XR_932837.1:n.3543-1705_3543-1696del
XR_932838.1:n.3543-1705_3543-1696del
XR_933133.1:n.407+419_407+428del
XR_933134.1:n.754+419_754+428del
NM_001351800.1:c.2965-77_2965-68del NP_001338729.1:n.2965-77_2965-68del
NR_147784.1:n.3169-1705_3169-1696del
XM_011522479.2:c.3274-77_3274-68del XP_011520781.1:n.3274-77_3274-68del
XM_011522481.3:c.2965-77_2965-68del XP_011520783.1:n.2965-77_2965-68del
XM_017023212.1:c.3139-77_3139-68del XP_016878701.1:n.3139-77_3139-68del
XM_017023214.1:c.3307-1705_3307-1696del XP_016878703.1:n.3307-1705_3307-1696del
XM_024450261.1:c.3343-77_3343-68del XP_024306029.1:n.3343-77_3343-68del
XR_932836.2:n.3488-77_3488-68del
XR_932837.3:n.3488-1705_3488-1696del
XR_932838.3:n.3488-1705_3488-1696del
NM_001171.6:c.3307-77_3307-68del MANE Select NP_001162.5:n.3307-77_3307-68del