Canonical Allele Identifier: CA2806038123

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155228_16155231del , CM000678.2:g.16155228_16155231del	GRCh38
NC_000016.9:g.16249085_16249088del , CM000678.1:g.16249085_16249088del	GRCh37
NC_000016.8:g.16156586_16156589del	NCBI36
NG_007558.2:g.73242_73245del
NG_007558.3:g.73388_73391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.547_550del
ENST00000622290.5:c.*55-199_*55-196del	ENSP00000483331.2:n.*55-199_*55-196del
ENST00000205557.12:c.3883-199_3883-196del MANE Select	ENSP00000205557.7:n.3883-199_3883-196del
ENST00000640696.1:c.697-199_697-196del	ENSP00000492197.1:n.697-199_697-196del
ENST00000205557.11:c.3883-199_3883-196del	ENSP00000205557.7:n.3883-199_3883-196del
ENST00000456970.6:c.3508-199_3508-196del	ENSP00000405002.2:n.3508-199_3508-196del
ENST00000576204.5:n.547_550del
ENST00000622290.4:c.*1092-199_*1092-196del	ENSP00000483331.1:n.*1092-199_*1092-196del
NM_001171.5:c.3883-199_3883-196del	NP_001162.4:n.3883-199_3883-196del
XM_011522479.1:c.3850-199_3850-196del	XP_011520781.1:n.3850-199_3850-196del
XM_011522480.1:c.3541-199_3541-196del	XP_011520782.1:n.3541-199_3541-196del
XM_011522481.1:c.3541-199_3541-196del	XP_011520783.1:n.3541-199_3541-196del
XR_932836.1:n.4181-199_4181-196del
XR_932837.1:n.3919-199_3919-196del
XR_932838.1:n.3982-199_3982-196del
XR_933134.1:n.539-4553_539-4550del
NM_001351800.1:c.3541-199_3541-196del	NP_001338729.1:n.3541-199_3541-196del
NR_147784.1:n.3545-199_3545-196del
XM_011522479.2:c.3850-199_3850-196del	XP_011520781.1:n.3850-199_3850-196del
XM_011522481.3:c.3541-199_3541-196del	XP_011520783.1:n.3541-199_3541-196del
XM_017023212.1:c.3715-199_3715-196del	XP_016878701.1:n.3715-199_3715-196del
XM_024450261.1:c.3919-199_3919-196del	XP_024306029.1:n.3919-199_3919-196del
XR_932836.2:n.4127-199_4127-196del
XR_932837.3:n.3864-199_3864-196del
XR_932838.3:n.3927-199_3927-196del
NM_001171.6:c.3883-199_3883-196del MANE Select	NP_001162.5:n.3883-199_3883-196del