Canonical Allele Identifier: CA2575924603

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154579_16154580insGCCCT , CM000678.2:g.16154579_16154580insGCCCT	GRCh38
NC_000016.9:g.16248436_16248437insGCCCT , CM000678.1:g.16248436_16248437insGCCCT	GRCh37
NC_000016.8:g.16155937_16155938insGCCCT	NCBI36
NG_007558.2:g.73893_73894insGGGCA
NG_007558.3:g.74039_74040insGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+49_*380+50insGGGCA	ENSP00000483331.2:n.*380+49_*380+50insGGGCA
ENST00000205557.12:c.4208+49_4208+50insGGGCA MANE Select	ENSP00000205557.7:n.4208+49_4208+50insGGGCA
ENST00000640696.1:c.1022+49_1022+50insGGGCA	ENSP00000492197.1:n.1022+49_1022+50insGGGCA
ENST00000205557.11:c.4208+49_4208+50insGGGCA	ENSP00000205557.7:n.4208+49_4208+50insGGGCA
ENST00000456970.6:c.3833+49_3833+50insGGGCA	ENSP00000405002.2:n.3833+49_3833+50insGGGCA
ENST00000576204.5:n.1071+49_1071+50insGGGCA
ENST00000622290.4:c.*1417+49_*1417+50insGGGCA	ENSP00000483331.1:n.*1417+49_*1417+50insGGGCA
NM_001171.5:c.4208+49_4208+50insGGGCA	NP_001162.4:n.4208+49_4208+50insGGGCA
XM_011522479.1:c.4175+49_4175+50insGGGCA	XP_011520781.1:n.4175+49_4175+50insGGGCA
XM_011522480.1:c.3866+49_3866+50insGGGCA	XP_011520782.1:n.3866+49_3866+50insGGGCA
XM_011522481.1:c.3866+49_3866+50insGGGCA	XP_011520783.1:n.3866+49_3866+50insGGGCA
XR_933134.1:n.539-5202_539-5201insGCCCT
NM_001351800.1:c.3866+49_3866+50insGGGCA	NP_001338729.1:n.3866+49_3866+50insGGGCA
NR_147784.1:n.3870+49_3870+50insGGGCA
XM_011522479.2:c.4175+49_4175+50insGGGCA	XP_011520781.1:n.4175+49_4175+50insGGGCA
XM_011522481.3:c.3866+49_3866+50insGGGCA	XP_011520783.1:n.3866+49_3866+50insGGGCA
XM_017023212.1:c.4040+49_4040+50insGGGCA	XP_016878701.1:n.4040+49_4040+50insGGGCA
XM_024450261.1:c.4244+49_4244+50insGGGCA	XP_024306029.1:n.4244+49_4244+50insGGGCA
NM_001171.6:c.4208+49_4208+50insGGGCA MANE Select	NP_001162.5:n.4208+49_4208+50insGGGCA