Canonical Allele Identifier: CA2806038012

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155161_16155166del , CM000678.2:g.16155161_16155166del	GRCh38
NC_000016.9:g.16249018_16249023del , CM000678.1:g.16249018_16249023del	GRCh37
NC_000016.8:g.16156519_16156524del	NCBI36
NG_007558.2:g.73308_73313del
NG_007558.3:g.73454_73459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.613_618del
ENST00000622290.5:c.*55-133_*55-128del	ENSP00000483331.2:n.*55-133_*55-128del
ENST00000205557.12:c.3883-133_3883-128del MANE Select	ENSP00000205557.7:n.3883-133_3883-128del
ENST00000640696.1:c.697-133_697-128del	ENSP00000492197.1:n.697-133_697-128del
ENST00000205557.11:c.3883-133_3883-128del	ENSP00000205557.7:n.3883-133_3883-128del
ENST00000456970.6:c.3508-133_3508-128del	ENSP00000405002.2:n.3508-133_3508-128del
ENST00000576204.5:n.613_618del
ENST00000622290.4:c.*1092-133_*1092-128del	ENSP00000483331.1:n.*1092-133_*1092-128del
NM_001171.5:c.3883-133_3883-128del	NP_001162.4:n.3883-133_3883-128del
XM_011522479.1:c.3850-133_3850-128del	XP_011520781.1:n.3850-133_3850-128del
XM_011522480.1:c.3541-133_3541-128del	XP_011520782.1:n.3541-133_3541-128del
XM_011522481.1:c.3541-133_3541-128del	XP_011520783.1:n.3541-133_3541-128del
XR_932836.1:n.4181-133_4181-128del
XR_932837.1:n.3919-133_3919-128del
XR_932838.1:n.3982-133_3982-128del
XR_933134.1:n.539-4620_539-4615del
NM_001351800.1:c.3541-133_3541-128del	NP_001338729.1:n.3541-133_3541-128del
NR_147784.1:n.3545-133_3545-128del
XM_011522479.2:c.3850-133_3850-128del	XP_011520781.1:n.3850-133_3850-128del
XM_011522481.3:c.3541-133_3541-128del	XP_011520783.1:n.3541-133_3541-128del
XM_017023212.1:c.3715-133_3715-128del	XP_016878701.1:n.3715-133_3715-128del
XM_024450261.1:c.3919-133_3919-128del	XP_024306029.1:n.3919-133_3919-128del
XR_932836.2:n.4127-133_4127-128del
XR_932837.3:n.3864-133_3864-128del
XR_932838.3:n.3927-133_3927-128del
NM_001171.6:c.3883-133_3883-128del MANE Select	NP_001162.5:n.3883-133_3883-128del