Canonical Allele Identifier: CA2806039931

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169831_16169832insAGA , CM000678.2:g.16169831_16169832insAGA	GRCh38
NC_000016.9:g.16263688_16263689insAGA , CM000678.1:g.16263688_16263689insAGA	GRCh37
NC_000016.8:g.16171189_16171190insAGA	NCBI36
NG_007558.2:g.58640_58641insTCT
NG_007558.3:g.58786_58787insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2809_2810insTCT	ENSP00000483331.2:p.Ala937delinsValSer
ENST00000205557.12:c.2809_2810insTCT MANE Select	ENSP00000205557.7:p.Ala937delinsValSer
ENST00000205557.11:c.2809_2810insTCT	ENSP00000205557.7:p.Ala937delinsValSer
ENST00000456970.6:c.2634_2635insTCT	ENSP00000405002.2:n.2634_2635insTCT
ENST00000622290.4:c.*18_*19insTCT	ENSP00000483331.1:n.*18_*19insTCT
NM_001171.5:c.2809_2810insTCT	NP_001162.4:p.Ala937delinsValSer
XM_011522479.1:c.2776_2777insTCT	XP_011520781.1:p.Ala926delinsValSer
XM_011522480.1:c.2467_2468insTCT	XP_011520782.1:p.Ala823delinsValSer
XM_011522481.1:c.2467_2468insTCT	XP_011520783.1:p.Ala823delinsValSer
XR_932836.1:n.3044_3045insTCT
XR_932837.1:n.3045_3046insTCT
XR_932838.1:n.3045_3046insTCT
NM_001351800.1:c.2467_2468insTCT	NP_001338729.1:p.Ala823delinsValSer
NR_147784.1:n.2671_2672insTCT
XM_011522479.2:c.2776_2777insTCT	XP_011520781.1:p.Ala926delinsValSer
XM_011522481.3:c.2467_2468insTCT	XP_011520783.1:p.Ala823delinsValSer
XM_017023212.1:c.2641_2642insTCT	XP_016878701.1:p.Ala881delinsValSer
XM_017023214.1:c.2809_2810insTCT	XP_016878703.1:p.Ala937delinsValSer
XM_024450261.1:c.2845_2846insTCT	XP_024306029.1:p.Ala949delinsValSer
XR_932836.2:n.2990_2991insTCT
XR_932837.3:n.2990_2991insTCT
XR_932838.3:n.2990_2991insTCT
NM_001171.6:c.2809_2810insTCT MANE Select	NP_001162.5:p.Ala937delinsValSer