Canonical Allele Identifier: CA2514634835
Gene: ABCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016366_16016367insGG , CM000678.2:g.16016366_16016367insGG GRCh38
NC_000016.9:g.16110223_16110224insGG , CM000678.1:g.16110223_16110224insGG GRCh37
NC_000016.8:g.16017724_16017725insGG NCBI36
NG_028268.1:g.71790_71791insGG
NG_028268.2:g.71790_71791insGG

Transcript Alleles

HGVS Amino-acid Change
NM_004996.4:c.490-130_490-129insGG MANE Select NP_004987.2:n.490-130_490-129insGG
ENST00000399410.8:c.490-130_490-129insGG MANE Select ENSP00000382342.3:n.490-130_490-129insGG
NM_004996.3:c.490-130_490-129insGG NP_004987.2:n.490-130_490-129insGG
ENST00000399408.6:c.-489-130_-489-129insGG ENSP00000382340.3:n.-489-130_-489-129insGG
ENST00000399408.7:c.490-130_490-129insGG ENSP00000382340.4:n.490-130_490-129insGG
ENST00000399410.7:c.490-130_490-129insGG ENSP00000382342.3:n.490-130_490-129insGG
ENST00000572882.2:c.185-130_185-129insGG
ENST00000572882.3:c.490-130_490-129insGG ENSP00000461615.2:n.490-130_490-129insGG
ENST00000574224.1:n.90-130_90-129insGG
ENST00000574224.2:n.565-130_565-129insGG
ENST00000677164.1:c.489+1738_489+1739insGG ENSP00000502873.1:n.489+1738_489+1739insGG
ENST00000678422.1:c.490-130_490-129insGG ENSP00000503954.1:n.490-130_490-129insGG
ENST00000679043.1:n.442-130_442-129insGG
XM_011522497.1:c.466-130_466-129insGG XP_011520799.1:n.466-130_466-129insGG
XM_011522498.1:c.544-130_544-129insGG XP_011520800.1:n.544-130_544-129insGG
XM_011522498.2:c.544-130_544-129insGG XP_011520800.1:n.544-130_544-129insGG
XM_017023237.1:c.544-130_544-129insGG XP_016878726.1:n.544-130_544-129insGG
XM_017023238.1:c.543+1738_543+1739insGG XP_016878727.1:n.543+1738_543+1739insGG
XM_017023239.1:c.406-130_406-129insGG XP_016878728.1:n.406-130_406-129insGG
XM_017023240.1:c.544-130_544-129insGG XP_016878729.1:n.544-130_544-129insGG
XM_017023241.1:c.405+6465_405+6466insGG XP_016878730.1:n.405+6465_405+6466insGG
XM_017023242.1:c.544-130_544-129insGG XP_016878731.1:n.544-130_544-129insGG
XM_017023243.2:c.544-130_544-129insGG XP_016878732.1:n.544-130_544-129insGG