Canonical Allele Identifier: CA2631968981

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16177463-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177464dup , CM000678.2:g.16177464dup	GRCh38
NC_000016.9:g.16271321dup , CM000678.1:g.16271321dup	GRCh37
NC_000016.8:g.16178822dup	NCBI36
NG_007558.2:g.51008dup
NG_007558.3:g.51154dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2578dup	ENSP00000483331.2:p.Arg860LysfsTer27
ENST00000205557.12:c.2578dup MANE Select	ENSP00000205557.7:p.Arg860LysfsTer27
ENST00000205557.11:c.2578dup	ENSP00000205557.7:p.Arg860LysfsTer27
ENST00000456970.6:c.2415+1334dup	ENSP00000405002.2:n.2415+1334dup
ENST00000576683.1:n.58dup
ENST00000622290.4:c.2415+1334dup	ENSP00000483331.1:n.2415+1334dup
NM_001171.5:c.2578dup	NP_001162.4:p.Arg860LysfsTer27
XM_011522479.1:c.2545dup	XP_011520781.1:p.Arg849LysfsTer27
XM_011522480.1:c.2236dup	XP_011520782.1:p.Arg746LysfsTer27
XM_011522481.1:c.2236dup	XP_011520783.1:p.Arg746LysfsTer27
XM_011522482.1:c.2578dup	XP_011520784.1:p.Arg860LysfsTer7
XR_932836.1:n.2813dup
XR_932837.1:n.2814dup
XR_932838.1:n.2814dup
NM_001351800.1:c.2236dup	NP_001338729.1:p.Arg746LysfsTer27
NR_147784.1:n.2452+1334dup
XM_011522479.2:c.2545dup	XP_011520781.1:p.Arg849LysfsTer27
XM_011522481.3:c.2236dup	XP_011520783.1:p.Arg746LysfsTer27
XM_011522482.3:c.2578dup	XP_011520784.1:p.Arg860LysfsTer7
XM_017023212.1:c.2410dup	XP_016878701.1:p.Arg804LysfsTer27
XM_017023214.1:c.2578dup	XP_016878703.1:p.Arg860LysfsTer27
XM_024450261.1:c.2614dup	XP_024306029.1:p.Arg872LysfsTer27
XR_932836.2:n.2759dup
XR_932837.3:n.2759dup
XR_932838.3:n.2759dup
NM_001171.6:c.2578dup MANE Select	NP_001162.5:p.Arg860LysfsTer27