Canonical Allele Identifier: CA2210141383

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046516887

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155329_16155331del , CM000678.2:g.16155329_16155331del	GRCh38
NC_000016.9:g.16249186_16249188del , CM000678.1:g.16249186_16249188del	GRCh37
NC_000016.8:g.16156687_16156689del	NCBI36
NG_007558.2:g.73145_73147del
NG_007558.3:g.73291_73293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.450_452del
ENST00000622290.5:c.*55-296_*55-294del	ENSP00000483331.2:n.*55-296_*55-294del
ENST00000205557.12:c.3883-296_3883-294del MANE Select	ENSP00000205557.7:n.3883-296_3883-294del
ENST00000640696.1:c.697-296_697-294del	ENSP00000492197.1:n.697-296_697-294del
ENST00000205557.11:c.3883-296_3883-294del	ENSP00000205557.7:n.3883-296_3883-294del
ENST00000456970.6:c.3508-296_3508-294del	ENSP00000405002.2:n.3508-296_3508-294del
ENST00000576204.5:n.450_452del
ENST00000622290.4:c.*1092-296_*1092-294del	ENSP00000483331.1:n.*1092-296_*1092-294del
NM_001171.5:c.3883-296_3883-294del	NP_001162.4:n.3883-296_3883-294del
XM_011522479.1:c.3850-296_3850-294del	XP_011520781.1:n.3850-296_3850-294del
XM_011522480.1:c.3541-296_3541-294del	XP_011520782.1:n.3541-296_3541-294del
XM_011522481.1:c.3541-296_3541-294del	XP_011520783.1:n.3541-296_3541-294del
XR_932836.1:n.4181-296_4181-294del
XR_932837.1:n.3919-296_3919-294del
XR_932838.1:n.3982-296_3982-294del
XR_933134.1:n.539-4452_539-4450del
NM_001351800.1:c.3541-296_3541-294del	NP_001338729.1:n.3541-296_3541-294del
NR_147784.1:n.3545-296_3545-294del
XM_011522479.2:c.3850-296_3850-294del	XP_011520781.1:n.3850-296_3850-294del
XM_011522481.3:c.3541-296_3541-294del	XP_011520783.1:n.3541-296_3541-294del
XM_017023212.1:c.3715-296_3715-294del	XP_016878701.1:n.3715-296_3715-294del
XM_024450261.1:c.3919-296_3919-294del	XP_024306029.1:n.3919-296_3919-294del
XR_932836.2:n.4127-296_4127-294del
XR_932837.3:n.3864-296_3864-294del
XR_932838.3:n.3927-296_3927-294del
NM_001171.6:c.3883-296_3883-294del MANE Select	NP_001162.5:n.3883-296_3883-294del