Canonical Allele Identifier: CA2806038148

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155251_16155252del , CM000678.2:g.16155251_16155252del	GRCh38
NC_000016.9:g.16249108_16249109del , CM000678.1:g.16249108_16249109del	GRCh37
NC_000016.8:g.16156609_16156610del	NCBI36
NG_007558.2:g.73222_73223del
NG_007558.3:g.73368_73369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.527_528del
ENST00000622290.5:c.*55-219_*55-218del	ENSP00000483331.2:n.*55-219_*55-218del
ENST00000205557.12:c.3883-219_3883-218del MANE Select	ENSP00000205557.7:n.3883-219_3883-218del
ENST00000640696.1:c.697-219_697-218del	ENSP00000492197.1:n.697-219_697-218del
ENST00000205557.11:c.3883-219_3883-218del	ENSP00000205557.7:n.3883-219_3883-218del
ENST00000456970.6:c.3508-219_3508-218del	ENSP00000405002.2:n.3508-219_3508-218del
ENST00000576204.5:n.527_528del
ENST00000622290.4:c.*1092-219_*1092-218del	ENSP00000483331.1:n.*1092-219_*1092-218del
NM_001171.5:c.3883-219_3883-218del	NP_001162.4:n.3883-219_3883-218del
XM_011522479.1:c.3850-219_3850-218del	XP_011520781.1:n.3850-219_3850-218del
XM_011522480.1:c.3541-219_3541-218del	XP_011520782.1:n.3541-219_3541-218del
XM_011522481.1:c.3541-219_3541-218del	XP_011520783.1:n.3541-219_3541-218del
XR_932836.1:n.4181-219_4181-218del
XR_932837.1:n.3919-219_3919-218del
XR_932838.1:n.3982-219_3982-218del
XR_933134.1:n.539-4530_539-4529del
NM_001351800.1:c.3541-219_3541-218del	NP_001338729.1:n.3541-219_3541-218del
NR_147784.1:n.3545-219_3545-218del
XM_011522479.2:c.3850-219_3850-218del	XP_011520781.1:n.3850-219_3850-218del
XM_011522481.3:c.3541-219_3541-218del	XP_011520783.1:n.3541-219_3541-218del
XM_017023212.1:c.3715-219_3715-218del	XP_016878701.1:n.3715-219_3715-218del
XM_024450261.1:c.3919-219_3919-218del	XP_024306029.1:n.3919-219_3919-218del
XR_932836.2:n.4127-219_4127-218del
XR_932837.3:n.3864-219_3864-218del
XR_932838.3:n.3927-219_3927-218del
NM_001171.6:c.3883-219_3883-218del MANE Select	NP_001162.5:n.3883-219_3883-218del