Canonical Allele Identifier: CA2631962099

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159571-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159572dup , CM000678.2:g.16159572dup	GRCh38
NC_000016.9:g.16253429dup , CM000678.1:g.16253429dup	GRCh37
NC_000016.8:g.16160930dup	NCBI36
NG_007558.2:g.68900dup
NG_007558.3:g.69046dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3645dup	ENSP00000483331.2:p.Leu1216ThrfsTer?
ENST00000205557.12:c.3645dup MANE Select	ENSP00000205557.7:p.Leu1216ThrfsTer?
ENST00000640696.1:c.459dup	ENSP00000492197.1:p.Leu154ThrfsTer?
ENST00000205557.11:c.3645dup	ENSP00000205557.7:p.Leu1216ThrfsTer?
ENST00000456970.6:c.3270dup	ENSP00000405002.2:n.3270dup
ENST00000622290.4:c.*854dup	ENSP00000483331.1:n.*854dup
NM_001171.5:c.3645dup	NP_001162.4:p.Leu1216ThrfsTer?
XM_011522479.1:c.3612dup	XP_011520781.1:p.Leu1205ThrfsTer?
XM_011522480.1:c.3303dup	XP_011520782.1:p.Leu1102ThrfsTer?
XM_011522481.1:c.3303dup	XP_011520783.1:p.Leu1102ThrfsTer?
XR_932836.1:n.3880dup
XR_932837.1:n.3681dup
XR_932838.1:n.3681dup
XR_933134.1:n.539-209dup
NM_001351800.1:c.3303dup	NP_001338729.1:p.Leu1102ThrfsTer?
NR_147784.1:n.3307dup
XM_011522479.2:c.3612dup	XP_011520781.1:p.Leu1205ThrfsTer?
XM_011522481.3:c.3303dup	XP_011520783.1:p.Leu1102ThrfsTer?
XM_017023212.1:c.3477dup	XP_016878701.1:p.Leu1160ThrfsTer?
XM_024450261.1:c.3681dup	XP_024306029.1:p.Leu1228ThrfsTer?
XR_932836.2:n.3826dup
XR_932837.3:n.3626dup
XR_932838.3:n.3626dup
NM_001171.6:c.3645dup MANE Select	NP_001162.5:p.Leu1216ThrfsTer?