Canonical Allele Identifier: CA2210141388

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046517089
• gnomAD v3: 16-16155329-ATC-A
• gnomAD v4: 16-16155329-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155334_16155335del , CM000678.2:g.16155334_16155335del	GRCh38
NC_000016.9:g.16249191_16249192del , CM000678.1:g.16249191_16249192del	GRCh37
NC_000016.8:g.16156692_16156693del	NCBI36
NG_007558.2:g.73141_73142del
NG_007558.3:g.73287_73288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.446_447del
ENST00000622290.5:c.*55-300_*55-299del	ENSP00000483331.2:n.*55-300_*55-299del
ENST00000205557.12:c.3883-300_3883-299del MANE Select	ENSP00000205557.7:n.3883-300_3883-299del
ENST00000640696.1:c.697-300_697-299del	ENSP00000492197.1:n.697-300_697-299del
ENST00000205557.11:c.3883-300_3883-299del	ENSP00000205557.7:n.3883-300_3883-299del
ENST00000456970.6:c.3508-300_3508-299del	ENSP00000405002.2:n.3508-300_3508-299del
ENST00000576204.5:n.446_447del
ENST00000622290.4:c.*1092-300_*1092-299del	ENSP00000483331.1:n.*1092-300_*1092-299del
NM_001171.5:c.3883-300_3883-299del	NP_001162.4:n.3883-300_3883-299del
XM_011522479.1:c.3850-300_3850-299del	XP_011520781.1:n.3850-300_3850-299del
XM_011522480.1:c.3541-300_3541-299del	XP_011520782.1:n.3541-300_3541-299del
XM_011522481.1:c.3541-300_3541-299del	XP_011520783.1:n.3541-300_3541-299del
XR_932836.1:n.4181-300_4181-299del
XR_932837.1:n.3919-300_3919-299del
XR_932838.1:n.3982-300_3982-299del
XR_933134.1:n.539-4447_539-4446del
NM_001351800.1:c.3541-300_3541-299del	NP_001338729.1:n.3541-300_3541-299del
NR_147784.1:n.3545-300_3545-299del
XM_011522479.2:c.3850-300_3850-299del	XP_011520781.1:n.3850-300_3850-299del
XM_011522481.3:c.3541-300_3541-299del	XP_011520783.1:n.3541-300_3541-299del
XM_017023212.1:c.3715-300_3715-299del	XP_016878701.1:n.3715-300_3715-299del
XM_024450261.1:c.3919-300_3919-299del	XP_024306029.1:n.3919-300_3919-299del
XR_932836.2:n.4127-300_4127-299del
XR_932837.3:n.3864-300_3864-299del
XR_932838.3:n.3927-300_3927-299del
NM_001171.6:c.3883-300_3883-299del MANE Select	NP_001162.5:n.3883-300_3883-299del