Canonical Allele Identifier: CA2631960036

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155355-CCCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155361_16155364del , CM000678.2:g.16155361_16155364del	GRCh38
NC_000016.9:g.16249218_16249221del , CM000678.1:g.16249218_16249221del	GRCh37
NC_000016.8:g.16156719_16156722del	NCBI36
NG_007558.2:g.73113_73116del
NG_007558.3:g.73259_73262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.418_421del
ENST00000622290.5:c.*55-328_*55-325del	ENSP00000483331.2:n.*55-328_*55-325del
ENST00000205557.12:c.3883-328_3883-325del MANE Select	ENSP00000205557.7:n.3883-328_3883-325del
ENST00000640696.1:c.697-328_697-325del	ENSP00000492197.1:n.697-328_697-325del
ENST00000205557.11:c.3883-328_3883-325del	ENSP00000205557.7:n.3883-328_3883-325del
ENST00000456970.6:c.3508-328_3508-325del	ENSP00000405002.2:n.3508-328_3508-325del
ENST00000576204.5:n.418_421del
ENST00000622290.4:c.*1092-328_*1092-325del	ENSP00000483331.1:n.*1092-328_*1092-325del
NM_001171.5:c.3883-328_3883-325del	NP_001162.4:n.3883-328_3883-325del
XM_011522479.1:c.3850-328_3850-325del	XP_011520781.1:n.3850-328_3850-325del
XM_011522480.1:c.3541-328_3541-325del	XP_011520782.1:n.3541-328_3541-325del
XM_011522481.1:c.3541-328_3541-325del	XP_011520783.1:n.3541-328_3541-325del
XR_932836.1:n.4181-328_4181-325del
XR_932837.1:n.3919-328_3919-325del
XR_932838.1:n.3982-328_3982-325del
XR_933134.1:n.539-4420_539-4417del
NM_001351800.1:c.3541-328_3541-325del	NP_001338729.1:n.3541-328_3541-325del
NR_147784.1:n.3545-328_3545-325del
XM_011522479.2:c.3850-328_3850-325del	XP_011520781.1:n.3850-328_3850-325del
XM_011522481.3:c.3541-328_3541-325del	XP_011520783.1:n.3541-328_3541-325del
XM_017023212.1:c.3715-328_3715-325del	XP_016878701.1:n.3715-328_3715-325del
XM_024450261.1:c.3919-328_3919-325del	XP_024306029.1:n.3919-328_3919-325del
XR_932836.2:n.4127-328_4127-325del
XR_932837.3:n.3864-328_3864-325del
XR_932838.3:n.3927-328_3927-325del
NM_001171.6:c.3883-328_3883-325del MANE Select	NP_001162.5:n.3883-328_3883-325del