Canonical Allele Identifier: CA2567379345
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87583820_87583821insATAAATTTTTATT , CM000669.2:g.87583820_87583821insATAAATTTTTATT GRCh38
NC_000007.13:g.87213136_87213137insATAAATTTTTATT , CM000669.1:g.87213136_87213137insATAAATTTTTATT GRCh37
NC_000007.12:g.87051072_87051073insATAAATTTTTATT NCBI36
NG_011513.1:g.134428_134429insAATAAAAATTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.286+1691_286+1692insAATAAAAATTTAT ENSP00000265724.3:n.286+1691_286+1692insAATAAAAATTTAT
ENST00000622132.5:c.286+1691_286+1692insAATAAAAATTTAT MANE Select ENSP00000478255.1:n.286+1691_286+1692insAATAAAAATTTAT
ENST00000265724.7:c.286+1691_286+1692insAATAAAAATTTAT ENSP00000265724.3:n.286+1691_286+1692insAATAAAAATTTAT
ENST00000543898.5:c.286+1691_286+1692insAATAAAAATTTAT ENSP00000444095.1:n.286+1691_286+1692insAATAAAAATTTAT
ENST00000622132.4:c.286+1691_286+1692insAATAAAAATTTAT ENSP00000478255.1:n.286+1691_286+1692insAATAAAAATTTAT
NM_000927.4:c.286+1691_286+1692insAATAAAAATTTAT NP_000918.2:n.286+1691_286+1692insAATAAAAATTTAT
NM_001348944.1:c.286+1691_286+1692insAATAAAAATTTAT NP_001335873.1:n.286+1691_286+1692insAATAAAAATTTAT
NM_001348945.1:c.496+1691_496+1692insAATAAAAATTTAT NP_001335874.1:n.496+1691_496+1692insAATAAAAATTTAT
NM_001348946.1:c.286+1691_286+1692insAATAAAAATTTAT NP_001335875.1:n.286+1691_286+1692insAATAAAAATTTAT
NM_001348946.2:c.286+1691_286+1692insAATAAAAATTTAT MANE Select NP_001335875.1:n.286+1691_286+1692insAATAAAAATTTAT
NM_000927.5:c.286+1691_286+1692insAATAAAAATTTAT NP_000918.2:n.286+1691_286+1692insAATAAAAATTTAT
NM_001348944.2:c.286+1691_286+1692insAATAAAAATTTAT NP_001335873.1:n.286+1691_286+1692insAATAAAAATTTAT
NM_001348945.2:c.496+1691_496+1692insAATAAAAATTTAT NP_001335874.1:n.496+1691_496+1692insAATAAAAATTTAT