Canonical Allele Identifier: CA2210141281

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046512157

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155227_16155229del , CM000678.2:g.16155227_16155229del	GRCh38
NC_000016.9:g.16249084_16249086del , CM000678.1:g.16249084_16249086del	GRCh37
NC_000016.8:g.16156585_16156587del	NCBI36
NG_007558.2:g.73247_73249del
NG_007558.3:g.73393_73395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.552_554del
ENST00000622290.5:c.*55-194_*55-192del	ENSP00000483331.2:n.*55-194_*55-192del
ENST00000205557.12:c.3883-194_3883-192del MANE Select	ENSP00000205557.7:n.3883-194_3883-192del
ENST00000640696.1:c.697-194_697-192del	ENSP00000492197.1:n.697-194_697-192del
ENST00000205557.11:c.3883-194_3883-192del	ENSP00000205557.7:n.3883-194_3883-192del
ENST00000456970.6:c.3508-194_3508-192del	ENSP00000405002.2:n.3508-194_3508-192del
ENST00000576204.5:n.552_554del
ENST00000622290.4:c.*1092-194_*1092-192del	ENSP00000483331.1:n.*1092-194_*1092-192del
NM_001171.5:c.3883-194_3883-192del	NP_001162.4:n.3883-194_3883-192del
XM_011522479.1:c.3850-194_3850-192del	XP_011520781.1:n.3850-194_3850-192del
XM_011522480.1:c.3541-194_3541-192del	XP_011520782.1:n.3541-194_3541-192del
XM_011522481.1:c.3541-194_3541-192del	XP_011520783.1:n.3541-194_3541-192del
XR_932836.1:n.4181-194_4181-192del
XR_932837.1:n.3919-194_3919-192del
XR_932838.1:n.3982-194_3982-192del
XR_933134.1:n.539-4554_539-4552del
NM_001351800.1:c.3541-194_3541-192del	NP_001338729.1:n.3541-194_3541-192del
NR_147784.1:n.3545-194_3545-192del
XM_011522479.2:c.3850-194_3850-192del	XP_011520781.1:n.3850-194_3850-192del
XM_011522481.3:c.3541-194_3541-192del	XP_011520783.1:n.3541-194_3541-192del
XM_017023212.1:c.3715-194_3715-192del	XP_016878701.1:n.3715-194_3715-192del
XM_024450261.1:c.3919-194_3919-192del	XP_024306029.1:n.3919-194_3919-192del
XR_932836.2:n.4127-194_4127-192del
XR_932837.3:n.3864-194_3864-192del
XR_932838.3:n.3927-194_3927-192del
NM_001171.6:c.3883-194_3883-192del MANE Select	NP_001162.5:n.3883-194_3883-192del