Canonical Allele Identifier: CA2210131542

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159425_16159426delinsTG , CM000678.2:g.16159425_16159426delinsTG	GRCh38
NC_000016.9:g.16253282_16253283delinsTG , CM000678.1:g.16253282_16253283delinsTG	GRCh37
NC_000016.8:g.16160783_16160784delinsTG	NCBI36
NG_007558.2:g.69046_69047delinsCA
NG_007558.3:g.69192_69193delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3735+56_3735+57delinsCA	ENSP00000483331.2:n.3735+56_3735+57delinsCA
ENST00000205557.12:c.3735+56_3735+57delinsCA MANE Select	ENSP00000205557.7:n.3735+56_3735+57delinsCA
ENST00000640696.1:c.549+56_549+57delinsCA	ENSP00000492197.1:n.549+56_549+57delinsCA
ENST00000205557.11:c.3735+56_3735+57delinsCA	ENSP00000205557.7:n.3735+56_3735+57delinsCA
ENST00000456970.6:c.3360+56_3360+57delinsCA	ENSP00000405002.2:n.3360+56_3360+57delinsCA
ENST00000622290.4:c.*944+56_*944+57delinsCA	ENSP00000483331.1:n.*944+56_*944+57delinsCA
NM_001171.5:c.3735+56_3735+57delinsCA	NP_001162.4:n.3735+56_3735+57delinsCA
XM_011522479.1:c.3702+56_3702+57delinsCA	XP_011520781.1:n.3702+56_3702+57delinsCA
XM_011522480.1:c.3393+56_3393+57delinsCA	XP_011520782.1:n.3393+56_3393+57delinsCA
XM_011522481.1:c.3393+56_3393+57delinsCA	XP_011520783.1:n.3393+56_3393+57delinsCA
XR_932836.1:n.3970+56_3970+57delinsCA
XR_932837.1:n.3771+56_3771+57delinsCA
XR_932838.1:n.3771+56_3771+57delinsCA
XR_933134.1:n.539-356_539-355delinsTG
NM_001351800.1:c.3393+56_3393+57delinsCA	NP_001338729.1:n.3393+56_3393+57delinsCA
NR_147784.1:n.3397+56_3397+57delinsCA
XM_011522479.2:c.3702+56_3702+57delinsCA	XP_011520781.1:n.3702+56_3702+57delinsCA
XM_011522481.3:c.3393+56_3393+57delinsCA	XP_011520783.1:n.3393+56_3393+57delinsCA
XM_017023212.1:c.3567+56_3567+57delinsCA	XP_016878701.1:n.3567+56_3567+57delinsCA
XM_024450261.1:c.3771+56_3771+57delinsCA	XP_024306029.1:n.3771+56_3771+57delinsCA
XR_932836.2:n.3916+56_3916+57delinsCA
XR_932837.3:n.3716+56_3716+57delinsCA
XR_932838.3:n.3716+56_3716+57delinsCA
NM_001171.6:c.3735+56_3735+57delinsCA MANE Select	NP_001162.5:n.3735+56_3735+57delinsCA