Canonical Allele Identifier: CA2631959220

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154980-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154983del , CM000678.2:g.16154983del	GRCh38
NC_000016.9:g.16248840del , CM000678.1:g.16248840del	GRCh37
NC_000016.8:g.16156341del	NCBI36
NG_007558.2:g.73491del
NG_007558.3:g.73637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.796del
ENST00000622290.5:c.*105del	ENSP00000483331.2:n.*105del
ENST00000205557.12:c.3933del MANE Select	ENSP00000205557.7:p.Leu1312CysfsTer?
ENST00000640696.1:c.747del	ENSP00000492197.1:p.Leu250CysfsTer?
ENST00000205557.11:c.3933del	ENSP00000205557.7:p.Leu1312CysfsTer?
ENST00000456970.6:c.3558del	ENSP00000405002.2:n.3558del
ENST00000576204.5:n.796del
ENST00000622290.4:c.*1142del	ENSP00000483331.1:n.*1142del
NM_001171.5:c.3933del	NP_001162.4:p.Leu1312CysfsTer?
XM_011522479.1:c.3900del	XP_011520781.1:p.Leu1301CysfsTer?
XM_011522480.1:c.3591del	XP_011520782.1:p.Leu1198CysfsTer?
XM_011522481.1:c.3591del	XP_011520783.1:p.Leu1198CysfsTer?
XR_932836.1:n.4231del
XR_932837.1:n.3969del
XR_932838.1:n.4032del
XR_933134.1:n.539-4798del
NM_001351800.1:c.3591del	NP_001338729.1:p.Leu1198CysfsTer?
NR_147784.1:n.3595del
XM_011522479.2:c.3900del	XP_011520781.1:p.Leu1301CysfsTer?
XM_011522481.3:c.3591del	XP_011520783.1:p.Leu1198CysfsTer?
XM_017023212.1:c.3765del	XP_016878701.1:p.Leu1256CysfsTer?
XM_024450261.1:c.3969del	XP_024306029.1:p.Leu1324CysfsTer?
XR_932836.2:n.4177del
XR_932837.3:n.3914del
XR_932838.3:n.3977del
NM_001171.6:c.3933del MANE Select	NP_001162.5:p.Leu1312CysfsTer?