Canonical Allele Identifier: CA2806037998

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155146_16155148del , CM000678.2:g.16155146_16155148del	GRCh38
NC_000016.9:g.16249003_16249005del , CM000678.1:g.16249003_16249005del	GRCh37
NC_000016.8:g.16156504_16156506del	NCBI36
NG_007558.2:g.73324_73326del
NG_007558.3:g.73470_73472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.629_631del
ENST00000622290.5:c.*55-117_*55-115del	ENSP00000483331.2:n.*55-117_*55-115del
ENST00000205557.12:c.3883-117_3883-115del MANE Select	ENSP00000205557.7:n.3883-117_3883-115del
ENST00000640696.1:c.697-117_697-115del	ENSP00000492197.1:n.697-117_697-115del
ENST00000205557.11:c.3883-117_3883-115del	ENSP00000205557.7:n.3883-117_3883-115del
ENST00000456970.6:c.3508-117_3508-115del	ENSP00000405002.2:n.3508-117_3508-115del
ENST00000576204.5:n.629_631del
ENST00000622290.4:c.*1092-117_*1092-115del	ENSP00000483331.1:n.*1092-117_*1092-115del
NM_001171.5:c.3883-117_3883-115del	NP_001162.4:n.3883-117_3883-115del
XM_011522479.1:c.3850-117_3850-115del	XP_011520781.1:n.3850-117_3850-115del
XM_011522480.1:c.3541-117_3541-115del	XP_011520782.1:n.3541-117_3541-115del
XM_011522481.1:c.3541-117_3541-115del	XP_011520783.1:n.3541-117_3541-115del
XR_932836.1:n.4181-117_4181-115del
XR_932837.1:n.3919-117_3919-115del
XR_932838.1:n.3982-117_3982-115del
XR_933134.1:n.539-4635_539-4633del
NM_001351800.1:c.3541-117_3541-115del	NP_001338729.1:n.3541-117_3541-115del
NR_147784.1:n.3545-117_3545-115del
XM_011522479.2:c.3850-117_3850-115del	XP_011520781.1:n.3850-117_3850-115del
XM_011522481.3:c.3541-117_3541-115del	XP_011520783.1:n.3541-117_3541-115del
XM_017023212.1:c.3715-117_3715-115del	XP_016878701.1:n.3715-117_3715-115del
XM_024450261.1:c.3919-117_3919-115del	XP_024306029.1:n.3919-117_3919-115del
XR_932836.2:n.4127-117_4127-115del
XR_932837.3:n.3864-117_3864-115del
XR_932838.3:n.3927-117_3927-115del
NM_001171.6:c.3883-117_3883-115del MANE Select	NP_001162.5:n.3883-117_3883-115del