Canonical Allele Identifier: CA2210140376
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154602_16154603delinsTC , CM000678.2:g.16154602_16154603delinsTC GRCh38
NC_000016.9:g.16248459_16248460delinsTC , CM000678.1:g.16248459_16248460delinsTC GRCh37
NC_000016.8:g.16155960_16155961delinsTC NCBI36
NG_007558.2:g.73869_73870delinsGA
NG_007558.3:g.74015_74016delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*380+25_*380+26delinsGA ENSP00000483331.2:n.*380+25_*380+26delinsGA
ENST00000205557.12:c.4208+25_4208+26delinsGA MANE Select ENSP00000205557.7:n.4208+25_4208+26delinsGA
ENST00000640696.1:c.1022+25_1022+26delinsGA ENSP00000492197.1:n.1022+25_1022+26delinsGA
ENST00000205557.11:c.4208+25_4208+26delinsGA ENSP00000205557.7:n.4208+25_4208+26delinsGA
ENST00000456970.6:c.3833+25_3833+26delinsGA ENSP00000405002.2:n.3833+25_3833+26delinsGA
ENST00000576204.5:n.1071+25_1071+26delinsGA
ENST00000622290.4:c.*1417+25_*1417+26delinsGA ENSP00000483331.1:n.*1417+25_*1417+26delinsGA
NM_001171.5:c.4208+25_4208+26delinsGA NP_001162.4:n.4208+25_4208+26delinsGA
XM_011522479.1:c.4175+25_4175+26delinsGA XP_011520781.1:n.4175+25_4175+26delinsGA
XM_011522480.1:c.3866+25_3866+26delinsGA XP_011520782.1:n.3866+25_3866+26delinsGA
XM_011522481.1:c.3866+25_3866+26delinsGA XP_011520783.1:n.3866+25_3866+26delinsGA
XR_933134.1:n.539-5179_539-5178delinsTC
NM_001351800.1:c.3866+25_3866+26delinsGA NP_001338729.1:n.3866+25_3866+26delinsGA
NR_147784.1:n.3870+25_3870+26delinsGA
XM_011522479.2:c.4175+25_4175+26delinsGA XP_011520781.1:n.4175+25_4175+26delinsGA
XM_011522481.3:c.3866+25_3866+26delinsGA XP_011520783.1:n.3866+25_3866+26delinsGA
XM_017023212.1:c.4040+25_4040+26delinsGA XP_016878701.1:n.4040+25_4040+26delinsGA
XM_024450261.1:c.4244+25_4244+26delinsGA XP_024306029.1:n.4244+25_4244+26delinsGA
NM_001171.6:c.4208+25_4208+26delinsGA MANE Select NP_001162.5:n.4208+25_4208+26delinsGA