Canonical Allele Identifier: CA2210140317
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154527_16154528delinsTA , CM000678.2:g.16154527_16154528delinsTA GRCh38
NC_000016.9:g.16248384_16248385delinsTA , CM000678.1:g.16248384_16248385delinsTA GRCh37
NC_000016.8:g.16155885_16155886delinsTA NCBI36
NG_007558.2:g.73944_73945delinsTA
NG_007558.3:g.74090_74091delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*380+100_*380+101delinsTA ENSP00000483331.2:n.*380+100_*380+101delinsTA
ENST00000205557.12:c.4208+100_4208+101delinsTA MANE Select ENSP00000205557.7:n.4208+100_4208+101delinsTA
ENST00000640696.1:c.1022+100_1022+101delinsTA ENSP00000492197.1:n.1022+100_1022+101delinsTA
ENST00000205557.11:c.4208+100_4208+101delinsTA ENSP00000205557.7:n.4208+100_4208+101delinsTA
ENST00000456970.6:c.3833+100_3833+101delinsTA ENSP00000405002.2:n.3833+100_3833+101delinsTA
ENST00000576204.5:n.1071+100_1071+101delinsTA
ENST00000622290.4:c.*1417+100_*1417+101delinsTA ENSP00000483331.1:n.*1417+100_*1417+101delinsTA
NM_001171.5:c.4208+100_4208+101delinsTA NP_001162.4:n.4208+100_4208+101delinsTA
XM_011522479.1:c.4175+100_4175+101delinsTA XP_011520781.1:n.4175+100_4175+101delinsTA
XM_011522480.1:c.3866+100_3866+101delinsTA XP_011520782.1:n.3866+100_3866+101delinsTA
XM_011522481.1:c.3866+100_3866+101delinsTA XP_011520783.1:n.3866+100_3866+101delinsTA
XR_933134.1:n.539-5254_539-5253delinsTA
NM_001351800.1:c.3866+100_3866+101delinsTA NP_001338729.1:n.3866+100_3866+101delinsTA
NR_147784.1:n.3870+100_3870+101delinsTA
XM_011522479.2:c.4175+100_4175+101delinsTA XP_011520781.1:n.4175+100_4175+101delinsTA
XM_011522481.3:c.3866+100_3866+101delinsTA XP_011520783.1:n.3866+100_3866+101delinsTA
XM_017023212.1:c.4040+100_4040+101delinsTA XP_016878701.1:n.4040+100_4040+101delinsTA
XM_024450261.1:c.4244+100_4244+101delinsTA XP_024306029.1:n.4244+100_4244+101delinsTA
NM_001171.6:c.4208+100_4208+101delinsTA MANE Select NP_001162.5:n.4208+100_4208+101delinsTA