Canonical Allele Identifier: CA2631959945

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155320-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155320_16155321insCTG , CM000678.2:g.16155320_16155321insCTG	GRCh38
NC_000016.9:g.16249177_16249178insCTG , CM000678.1:g.16249177_16249178insCTG	GRCh37
NC_000016.8:g.16156678_16156679insCTG	NCBI36
NG_007558.2:g.73151_73152insCAG
NG_007558.3:g.73297_73298insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.456_457insCAG
ENST00000622290.5:c.*55-290_*55-289insCAG	ENSP00000483331.2:n.*55-290_*55-289insCAG
ENST00000205557.12:c.3883-290_3883-289insCAG MANE Select	ENSP00000205557.7:n.3883-290_3883-289insCAG
ENST00000640696.1:c.697-290_697-289insCAG	ENSP00000492197.1:n.697-290_697-289insCAG
ENST00000205557.11:c.3883-290_3883-289insCAG	ENSP00000205557.7:n.3883-290_3883-289insCAG
ENST00000456970.6:c.3508-290_3508-289insCAG	ENSP00000405002.2:n.3508-290_3508-289insCAG
ENST00000576204.5:n.456_457insCAG
ENST00000622290.4:c.*1092-290_*1092-289insCAG	ENSP00000483331.1:n.*1092-290_*1092-289insCAG
NM_001171.5:c.3883-290_3883-289insCAG	NP_001162.4:n.3883-290_3883-289insCAG
XM_011522479.1:c.3850-290_3850-289insCAG	XP_011520781.1:n.3850-290_3850-289insCAG
XM_011522480.1:c.3541-290_3541-289insCAG	XP_011520782.1:n.3541-290_3541-289insCAG
XM_011522481.1:c.3541-290_3541-289insCAG	XP_011520783.1:n.3541-290_3541-289insCAG
XR_932836.1:n.4181-290_4181-289insCAG
XR_932837.1:n.3919-290_3919-289insCAG
XR_932838.1:n.3982-290_3982-289insCAG
XR_933134.1:n.539-4461_539-4460insCTG
NM_001351800.1:c.3541-290_3541-289insCAG	NP_001338729.1:n.3541-290_3541-289insCAG
NR_147784.1:n.3545-290_3545-289insCAG
XM_011522479.2:c.3850-290_3850-289insCAG	XP_011520781.1:n.3850-290_3850-289insCAG
XM_011522481.3:c.3541-290_3541-289insCAG	XP_011520783.1:n.3541-290_3541-289insCAG
XM_017023212.1:c.3715-290_3715-289insCAG	XP_016878701.1:n.3715-290_3715-289insCAG
XM_024450261.1:c.3919-290_3919-289insCAG	XP_024306029.1:n.3919-290_3919-289insCAG
XR_932836.2:n.4127-290_4127-289insCAG
XR_932837.3:n.3864-290_3864-289insCAG
XR_932838.3:n.3927-290_3927-289insCAG
NM_001171.6:c.3883-290_3883-289insCAG MANE Select	NP_001162.5:n.3883-290_3883-289insCAG