Canonical Allele Identifier: CA2210125577
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs2046149799

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16142223_16142228del , CM000678.2:g.16142223_16142228del GRCh38
NC_000016.9:g.16236080_16236085del , CM000678.1:g.16236080_16236085del GRCh37
NC_000016.8:g.16143581_16143586del NCBI36
NG_028268.1:g.197647_197652del
NG_028268.2:g.197647_197652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.*942_*947del ENSP00000382340.4:n.*942_*947del
ENST00000399410.8:c.*942_*947del MANE Select ENSP00000382342.3:n.*942_*947del
ENST00000572882.3:c.*942_*947del ENSP00000461615.2:n.*942_*947del
ENST00000676806.1:n.2264_2269del
ENST00000677164.1:c.*942_*947del ENSP00000502873.1:n.*942_*947del
ENST00000678422.1:c.*2635_*2640del ENSP00000503954.1:n.*2635_*2640del
ENST00000399408.6:c.*942_*947del ENSP00000382340.3:n.*942_*947del
ENST00000399410.7:c.*942_*947del ENSP00000382342.3:n.*942_*947del
NM_004996.3:c.*942_*947del NP_004987.2:n.*942_*947del
XM_011522497.1:c.*942_*947del XP_011520799.1:n.*942_*947del
XM_011522498.1:c.*942_*947del XP_011520800.1:n.*942_*947del
XM_011522498.2:c.*942_*947del XP_011520800.1:n.*942_*947del
XM_017023237.1:c.*942_*947del XP_016878726.1:n.*942_*947del
XM_017023238.1:c.*942_*947del XP_016878727.1:n.*942_*947del
XM_017023239.1:c.*942_*947del XP_016878728.1:n.*942_*947del
XM_017023240.1:c.*942_*947del XP_016878729.1:n.*942_*947del
XM_017023241.1:c.*942_*947del XP_016878730.1:n.*942_*947del
XM_017023242.1:c.*942_*947del XP_016878731.1:n.*942_*947del
NM_004996.4:c.*942_*947del MANE Select NP_004987.2:n.*942_*947del