Canonical Allele Identifier: CA2806038004
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155149_16155150insGTG , CM000678.2:g.16155149_16155150insGTG GRCh38
NC_000016.9:g.16249006_16249007insGTG , CM000678.1:g.16249006_16249007insGTG GRCh37
NC_000016.8:g.16156507_16156508insGTG NCBI36
NG_007558.2:g.73322_73323insCAC
NG_007558.3:g.73468_73469insCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.627_628insCAC
ENST00000622290.5:c.*55-119_*55-118insCAC ENSP00000483331.2:n.*55-119_*55-118insCAC
ENST00000205557.12:c.3883-119_3883-118insCAC MANE Select ENSP00000205557.7:n.3883-119_3883-118insCAC
ENST00000640696.1:c.697-119_697-118insCAC ENSP00000492197.1:n.697-119_697-118insCAC
ENST00000205557.11:c.3883-119_3883-118insCAC ENSP00000205557.7:n.3883-119_3883-118insCAC
ENST00000456970.6:c.3508-119_3508-118insCAC ENSP00000405002.2:n.3508-119_3508-118insCAC
ENST00000576204.5:n.627_628insCAC
ENST00000622290.4:c.*1092-119_*1092-118insCAC ENSP00000483331.1:n.*1092-119_*1092-118insCAC
NM_001171.5:c.3883-119_3883-118insCAC NP_001162.4:n.3883-119_3883-118insCAC
XM_011522479.1:c.3850-119_3850-118insCAC XP_011520781.1:n.3850-119_3850-118insCAC
XM_011522480.1:c.3541-119_3541-118insCAC XP_011520782.1:n.3541-119_3541-118insCAC
XM_011522481.1:c.3541-119_3541-118insCAC XP_011520783.1:n.3541-119_3541-118insCAC
XR_932836.1:n.4181-119_4181-118insCAC
XR_932837.1:n.3919-119_3919-118insCAC
XR_932838.1:n.3982-119_3982-118insCAC
XR_933134.1:n.539-4632_539-4631insGTG
NM_001351800.1:c.3541-119_3541-118insCAC NP_001338729.1:n.3541-119_3541-118insCAC
NR_147784.1:n.3545-119_3545-118insCAC
XM_011522479.2:c.3850-119_3850-118insCAC XP_011520781.1:n.3850-119_3850-118insCAC
XM_011522481.3:c.3541-119_3541-118insCAC XP_011520783.1:n.3541-119_3541-118insCAC
XM_017023212.1:c.3715-119_3715-118insCAC XP_016878701.1:n.3715-119_3715-118insCAC
XM_024450261.1:c.3919-119_3919-118insCAC XP_024306029.1:n.3919-119_3919-118insCAC
XR_932836.2:n.4127-119_4127-118insCAC
XR_932837.3:n.3864-119_3864-118insCAC
XR_932838.3:n.3927-119_3927-118insCAC
NM_001171.6:c.3883-119_3883-118insCAC MANE Select NP_001162.5:n.3883-119_3883-118insCAC