Canonical Allele Identifier: CA2631961907

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159458-CCCTCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159465_16159472del , CM000678.2:g.16159465_16159472del	GRCh38
NC_000016.9:g.16253322_16253329del , CM000678.1:g.16253322_16253329del	GRCh37
NC_000016.8:g.16160823_16160830del	NCBI36
NG_007558.2:g.69006_69013del
NG_007558.3:g.69152_69159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+16_3735+23del	ENSP00000483331.2:n.3735+16_3735+23del
ENST00000205557.12:c.3735+16_3735+23del MANE Select	ENSP00000205557.7:n.3735+16_3735+23del
ENST00000640696.1:c.549+16_549+23del	ENSP00000492197.1:n.549+16_549+23del
ENST00000205557.11:c.3735+16_3735+23del	ENSP00000205557.7:n.3735+16_3735+23del
ENST00000456970.6:c.3360+16_3360+23del	ENSP00000405002.2:n.3360+16_3360+23del
ENST00000622290.4:c.*944+16_*944+23del	ENSP00000483331.1:n.*944+16_*944+23del
NM_001171.5:c.3735+16_3735+23del	NP_001162.4:n.3735+16_3735+23del
XM_011522479.1:c.3702+16_3702+23del	XP_011520781.1:n.3702+16_3702+23del
XM_011522480.1:c.3393+16_3393+23del	XP_011520782.1:n.3393+16_3393+23del
XM_011522481.1:c.3393+16_3393+23del	XP_011520783.1:n.3393+16_3393+23del
XR_932836.1:n.3970+16_3970+23del
XR_932837.1:n.3771+16_3771+23del
XR_932838.1:n.3771+16_3771+23del
XR_933134.1:n.539-316_539-309del
NM_001351800.1:c.3393+16_3393+23del	NP_001338729.1:n.3393+16_3393+23del
NR_147784.1:n.3397+16_3397+23del
XM_011522479.2:c.3702+16_3702+23del	XP_011520781.1:n.3702+16_3702+23del
XM_011522481.3:c.3393+16_3393+23del	XP_011520783.1:n.3393+16_3393+23del
XM_017023212.1:c.3567+16_3567+23del	XP_016878701.1:n.3567+16_3567+23del
XM_024450261.1:c.3771+16_3771+23del	XP_024306029.1:n.3771+16_3771+23del
XR_932836.2:n.3916+16_3916+23del
XR_932837.3:n.3716+16_3716+23del
XR_932838.3:n.3716+16_3716+23del
NM_001171.6:c.3735+16_3735+23del MANE Select	NP_001162.5:n.3735+16_3735+23del