Canonical Allele Identifier: CA2210131428

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159356_16159357delinsTG , CM000678.2:g.16159356_16159357delinsTG	GRCh38
NC_000016.9:g.16253213_16253214delinsTG , CM000678.1:g.16253213_16253214delinsTG	GRCh37
NC_000016.8:g.16160714_16160715delinsTG	NCBI36
NG_007558.2:g.69115_69116delinsCA
NG_007558.3:g.69261_69262delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+125_3735+126delinsCA	ENSP00000483331.2:n.3735+125_3735+126delinsCA
ENST00000205557.12:c.3735+125_3735+126delinsCA MANE Select	ENSP00000205557.7:n.3735+125_3735+126delinsCA
ENST00000640696.1:c.549+125_549+126delinsCA	ENSP00000492197.1:n.549+125_549+126delinsCA
ENST00000205557.11:c.3735+125_3735+126delinsCA	ENSP00000205557.7:n.3735+125_3735+126delinsCA
ENST00000456970.6:c.3360+125_3360+126delinsCA	ENSP00000405002.2:n.3360+125_3360+126delinsCA
ENST00000622290.4:c.*944+125_*944+126delinsCA	ENSP00000483331.1:n.*944+125_*944+126delinsCA
NM_001171.5:c.3735+125_3735+126delinsCA	NP_001162.4:n.3735+125_3735+126delinsCA
XM_011522479.1:c.3702+125_3702+126delinsCA	XP_011520781.1:n.3702+125_3702+126delinsCA
XM_011522480.1:c.3393+125_3393+126delinsCA	XP_011520782.1:n.3393+125_3393+126delinsCA
XM_011522481.1:c.3393+125_3393+126delinsCA	XP_011520783.1:n.3393+125_3393+126delinsCA
XR_932836.1:n.3970+125_3970+126delinsCA
XR_932837.1:n.3771+125_3771+126delinsCA
XR_932838.1:n.3771+125_3771+126delinsCA
XR_933134.1:n.539-425_539-424delinsTG
NM_001351800.1:c.3393+125_3393+126delinsCA	NP_001338729.1:n.3393+125_3393+126delinsCA
NR_147784.1:n.3397+125_3397+126delinsCA
XM_011522479.2:c.3702+125_3702+126delinsCA	XP_011520781.1:n.3702+125_3702+126delinsCA
XM_011522481.3:c.3393+125_3393+126delinsCA	XP_011520783.1:n.3393+125_3393+126delinsCA
XM_017023212.1:c.3567+125_3567+126delinsCA	XP_016878701.1:n.3567+125_3567+126delinsCA
XM_024450261.1:c.3771+125_3771+126delinsCA	XP_024306029.1:n.3771+125_3771+126delinsCA
XR_932836.2:n.3916+125_3916+126delinsCA
XR_932837.3:n.3716+125_3716+126delinsCA
XR_932838.3:n.3716+125_3716+126delinsCA
NM_001171.6:c.3735+125_3735+126delinsCA MANE Select	NP_001162.5:n.3735+125_3735+126delinsCA