Canonical Allele Identifier: CA278625903

Gene: ABCC6

Linked Data

• dbSNP Id: rs923928388
• gnomAD v3: 16-16155293-C-CATCT
• gnomAD v4: 16-16155293-C-CATCT
• MyVariant Identifiers: chr16:g.16249150_16249151insATCT (hg19) ; chr16:g.16155293_16155294insATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155294_16155297dup , CM000678.2:g.16155294_16155297dup	GRCh38
NC_000016.9:g.16249151_16249154dup , CM000678.1:g.16249151_16249154dup	GRCh37
NC_000016.8:g.16156652_16156655dup	NCBI36
NG_007558.2:g.73175_73178dup
NG_007558.3:g.73321_73324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.480_483dup
ENST00000622290.5:c.*55-266_*55-263dup	ENSP00000483331.2:n.*55-266_*55-263dup
ENST00000205557.12:c.3883-266_3883-263dup MANE Select	ENSP00000205557.7:n.3883-266_3883-263dup
ENST00000640696.1:c.697-266_697-263dup	ENSP00000492197.1:n.697-266_697-263dup
ENST00000205557.11:c.3883-266_3883-263dup	ENSP00000205557.7:n.3883-266_3883-263dup
ENST00000456970.6:c.3508-266_3508-263dup	ENSP00000405002.2:n.3508-266_3508-263dup
ENST00000576204.5:n.480_483dup
ENST00000622290.4:c.*1092-266_*1092-263dup	ENSP00000483331.1:n.*1092-266_*1092-263dup
NM_001171.5:c.3883-266_3883-263dup	NP_001162.4:n.3883-266_3883-263dup
XM_011522479.1:c.3850-266_3850-263dup	XP_011520781.1:n.3850-266_3850-263dup
XM_011522480.1:c.3541-266_3541-263dup	XP_011520782.1:n.3541-266_3541-263dup
XM_011522481.1:c.3541-266_3541-263dup	XP_011520783.1:n.3541-266_3541-263dup
XR_932836.1:n.4181-266_4181-263dup
XR_932837.1:n.3919-266_3919-263dup
XR_932838.1:n.3982-266_3982-263dup
XR_933134.1:n.539-4487_539-4484dup
NM_001351800.1:c.3541-266_3541-263dup	NP_001338729.1:n.3541-266_3541-263dup
NR_147784.1:n.3545-266_3545-263dup
XM_011522479.2:c.3850-266_3850-263dup	XP_011520781.1:n.3850-266_3850-263dup
XM_011522481.3:c.3541-266_3541-263dup	XP_011520783.1:n.3541-266_3541-263dup
XM_017023212.1:c.3715-266_3715-263dup	XP_016878701.1:n.3715-266_3715-263dup
XM_024450261.1:c.3919-266_3919-263dup	XP_024306029.1:n.3919-266_3919-263dup
XR_932836.2:n.4127-266_4127-263dup
XR_932837.3:n.3864-266_3864-263dup
XR_932838.3:n.3927-266_3927-263dup
NM_001171.6:c.3883-266_3883-263dup MANE Select	NP_001162.5:n.3883-266_3883-263dup