Canonical Allele Identifier: CA718552038

Gene: ABCC6

Linked Data

• dbSNP Id: rs1233323261
• gnomAD v4: 16-16159356-TG-T
• MyVariant Identifiers: chr16:g.16253214del (hg19) ; chr16:g.16159357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159361del , CM000678.2:g.16159361del	GRCh38
NC_000016.9:g.16253218del , CM000678.1:g.16253218del	GRCh37
NC_000016.8:g.16160719del	NCBI36
NG_007558.2:g.69115del
NG_007558.3:g.69261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3735+125del	ENSP00000483331.2:n.3735+125del
ENST00000205557.12:c.3735+125del MANE Select	ENSP00000205557.7:n.3735+125del
ENST00000640696.1:c.549+125del	ENSP00000492197.1:n.549+125del
ENST00000205557.11:c.3735+125del	ENSP00000205557.7:n.3735+125del
ENST00000456970.6:c.3360+125del	ENSP00000405002.2:n.3360+125del
ENST00000622290.4:c.*944+125del	ENSP00000483331.1:n.*944+125del
NM_001171.5:c.3735+125del	NP_001162.4:n.3735+125del
XM_011522479.1:c.3702+125del	XP_011520781.1:n.3702+125del
XM_011522480.1:c.3393+125del	XP_011520782.1:n.3393+125del
XM_011522481.1:c.3393+125del	XP_011520783.1:n.3393+125del
XR_932836.1:n.3970+125del
XR_932837.1:n.3771+125del
XR_932838.1:n.3771+125del
XR_933134.1:n.539-420del
NM_001351800.1:c.3393+125del	NP_001338729.1:n.3393+125del
NR_147784.1:n.3397+125del
XM_011522479.2:c.3702+125del	XP_011520781.1:n.3702+125del
XM_011522481.3:c.3393+125del	XP_011520783.1:n.3393+125del
XM_017023212.1:c.3567+125del	XP_016878701.1:n.3567+125del
XM_024450261.1:c.3771+125del	XP_024306029.1:n.3771+125del
XR_932836.2:n.3916+125del
XR_932837.3:n.3716+125del
XR_932838.3:n.3716+125del
NM_001171.6:c.3735+125del MANE Select	NP_001162.5:n.3735+125del