Canonical Allele Identifier: CA718510044
Gene: ABCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16016373_16016380del , CM000678.2:g.16016373_16016380del GRCh38
NC_000016.9:g.16110230_16110237del , CM000678.1:g.16110230_16110237del GRCh37
NC_000016.8:g.16017731_16017738del NCBI36
NG_028268.1:g.71797_71804del
NG_028268.2:g.71797_71804del

Transcript Alleles

HGVS Amino-acid Change
NM_004996.4:c.490-123_490-116del MANE Select NP_004987.2:n.490-123_490-116del
ENST00000399410.8:c.490-123_490-116del MANE Select ENSP00000382342.3:n.490-123_490-116del
NM_004996.3:c.490-123_490-116del NP_004987.2:n.490-123_490-116del
ENST00000399408.6:c.-489-123_-489-116del ENSP00000382340.3:n.-489-123_-489-116del
ENST00000399408.7:c.490-123_490-116del ENSP00000382340.4:n.490-123_490-116del
ENST00000399410.7:c.490-123_490-116del ENSP00000382342.3:n.490-123_490-116del
ENST00000572882.2:c.185-123_185-116del
ENST00000572882.3:c.490-123_490-116del ENSP00000461615.2:n.490-123_490-116del
ENST00000574224.1:n.90-123_90-116del
ENST00000574224.2:n.565-123_565-116del
ENST00000677164.1:c.489+1745_489+1752del ENSP00000502873.1:n.489+1745_489+1752del
ENST00000678422.1:c.490-123_490-116del ENSP00000503954.1:n.490-123_490-116del
ENST00000679043.1:n.442-123_442-116del
XM_011522497.1:c.466-123_466-116del XP_011520799.1:n.466-123_466-116del
XM_011522498.1:c.544-123_544-116del XP_011520800.1:n.544-123_544-116del
XM_011522498.2:c.544-123_544-116del XP_011520800.1:n.544-123_544-116del
XM_017023237.1:c.544-123_544-116del XP_016878726.1:n.544-123_544-116del
XM_017023238.1:c.543+1745_543+1752del XP_016878727.1:n.543+1745_543+1752del
XM_017023239.1:c.406-123_406-116del XP_016878728.1:n.406-123_406-116del
XM_017023240.1:c.544-123_544-116del XP_016878729.1:n.544-123_544-116del
XM_017023241.1:c.405+6472_405+6479del XP_016878730.1:n.405+6472_405+6479del
XM_017023242.1:c.544-123_544-116del XP_016878731.1:n.544-123_544-116del
XM_017023243.2:c.544-123_544-116del XP_016878732.1:n.544-123_544-116del