Canonical Allele Identifier: CA2210125648
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs1210735266

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16142353_16142354del , CM000678.2:g.16142353_16142354del GRCh38
NC_000016.9:g.16236210_16236211del , CM000678.1:g.16236210_16236211del GRCh37
NC_000016.8:g.16143711_16143712del NCBI36
NG_028268.1:g.197777_197778del
NG_028268.2:g.197777_197778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.*1072_*1073del ENSP00000382340.4:n.*1072_*1073del
ENST00000399410.8:c.*1072_*1073del MANE Select ENSP00000382342.3:n.*1072_*1073del
ENST00000572882.3:c.*1072_*1073del ENSP00000461615.2:n.*1072_*1073del
ENST00000676806.1:n.2394_2395del
ENST00000677164.1:c.*1072_*1073del ENSP00000502873.1:n.*1072_*1073del
ENST00000678422.1:c.*2765_*2766del ENSP00000503954.1:n.*2765_*2766del
ENST00000399408.6:c.*1072_*1073del ENSP00000382340.3:n.*1072_*1073del
ENST00000399410.7:c.*1072_*1073del ENSP00000382342.3:n.*1072_*1073del
NM_004996.3:c.*1072_*1073del NP_004987.2:n.*1072_*1073del
XM_011522497.1:c.*1072_*1073del XP_011520799.1:n.*1072_*1073del
XM_011522498.1:c.*1072_*1073del XP_011520800.1:n.*1072_*1073del
XM_011522498.2:c.*1072_*1073del XP_011520800.1:n.*1072_*1073del
XM_017023237.1:c.*1072_*1073del XP_016878726.1:n.*1072_*1073del
XM_017023238.1:c.*1072_*1073del XP_016878727.1:n.*1072_*1073del
XM_017023239.1:c.*1072_*1073del XP_016878728.1:n.*1072_*1073del
XM_017023240.1:c.*1072_*1073del XP_016878729.1:n.*1072_*1073del
XM_017023241.1:c.*1072_*1073del XP_016878730.1:n.*1072_*1073del
XM_017023242.1:c.*1072_*1073del XP_016878731.1:n.*1072_*1073del
NM_004996.4:c.*1072_*1073del MANE Select NP_004987.2:n.*1072_*1073del