Canonical Allele Identifier: CA2631969495

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169844-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169846del , CM000678.2:g.16169846del	GRCh38
NC_000016.9:g.16263703del , CM000678.1:g.16263703del	GRCh37
NC_000016.8:g.16171204del	NCBI36
NG_007558.2:g.58627del
NG_007558.3:g.58773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2796del	ENSP00000483331.2:p.Thr933GlnfsTer?
ENST00000205557.12:c.2796del MANE Select	ENSP00000205557.7:p.Thr933GlnfsTer?
ENST00000205557.11:c.2796del	ENSP00000205557.7:p.Thr933GlnfsTer?
ENST00000456970.6:c.2621del	ENSP00000405002.2:n.2621del
ENST00000622290.4:c.*5del	ENSP00000483331.1:n.*5del
NM_001171.5:c.2796del	NP_001162.4:p.Thr933GlnfsTer?
XM_011522479.1:c.2763del	XP_011520781.1:p.Thr922GlnfsTer?
XM_011522480.1:c.2454del	XP_011520782.1:p.Thr819GlnfsTer?
XM_011522481.1:c.2454del	XP_011520783.1:p.Thr819GlnfsTer?
XR_932836.1:n.3031del
XR_932837.1:n.3032del
XR_932838.1:n.3032del
NM_001351800.1:c.2454del	NP_001338729.1:p.Thr819GlnfsTer?
NR_147784.1:n.2658del
XM_011522479.2:c.2763del	XP_011520781.1:p.Thr922GlnfsTer?
XM_011522481.3:c.2454del	XP_011520783.1:p.Thr819GlnfsTer?
XM_017023212.1:c.2628del	XP_016878701.1:p.Thr877GlnfsTer?
XM_017023214.1:c.2796del	XP_016878703.1:p.Thr933GlnfsTer?
XM_024450261.1:c.2832del	XP_024306029.1:p.Thr945GlnfsTer?
XR_932836.2:n.2977del
XR_932837.3:n.2977del
XR_932838.3:n.2977del
NM_001171.6:c.2796del MANE Select	NP_001162.5:p.Thr933GlnfsTer?