Canonical Allele Identifier: CA2806038079

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155194_16155195del , CM000678.2:g.16155194_16155195del	GRCh38
NC_000016.9:g.16249051_16249052del , CM000678.1:g.16249051_16249052del	GRCh37
NC_000016.8:g.16156552_16156553del	NCBI36
NG_007558.2:g.73278_73279del
NG_007558.3:g.73424_73425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.583_584del
ENST00000622290.5:c.*55-163_*55-162del	ENSP00000483331.2:n.*55-163_*55-162del
ENST00000205557.12:c.3883-163_3883-162del MANE Select	ENSP00000205557.7:n.3883-163_3883-162del
ENST00000640696.1:c.697-163_697-162del	ENSP00000492197.1:n.697-163_697-162del
ENST00000205557.11:c.3883-163_3883-162del	ENSP00000205557.7:n.3883-163_3883-162del
ENST00000456970.6:c.3508-163_3508-162del	ENSP00000405002.2:n.3508-163_3508-162del
ENST00000576204.5:n.583_584del
ENST00000622290.4:c.*1092-163_*1092-162del	ENSP00000483331.1:n.*1092-163_*1092-162del
NM_001171.5:c.3883-163_3883-162del	NP_001162.4:n.3883-163_3883-162del
XM_011522479.1:c.3850-163_3850-162del	XP_011520781.1:n.3850-163_3850-162del
XM_011522480.1:c.3541-163_3541-162del	XP_011520782.1:n.3541-163_3541-162del
XM_011522481.1:c.3541-163_3541-162del	XP_011520783.1:n.3541-163_3541-162del
XR_932836.1:n.4181-163_4181-162del
XR_932837.1:n.3919-163_3919-162del
XR_932838.1:n.3982-163_3982-162del
XR_933134.1:n.539-4587_539-4586del
NM_001351800.1:c.3541-163_3541-162del	NP_001338729.1:n.3541-163_3541-162del
NR_147784.1:n.3545-163_3545-162del
XM_011522479.2:c.3850-163_3850-162del	XP_011520781.1:n.3850-163_3850-162del
XM_011522481.3:c.3541-163_3541-162del	XP_011520783.1:n.3541-163_3541-162del
XM_017023212.1:c.3715-163_3715-162del	XP_016878701.1:n.3715-163_3715-162del
XM_024450261.1:c.3919-163_3919-162del	XP_024306029.1:n.3919-163_3919-162del
XR_932836.2:n.4127-163_4127-162del
XR_932837.3:n.3864-163_3864-162del
XR_932838.3:n.3927-163_3927-162del
NM_001171.6:c.3883-163_3883-162del MANE Select	NP_001162.5:n.3883-163_3883-162del