Canonical Allele Identifier: CA1104147765

Gene: ABCB1

Linked Data

• dbSNP Id: rs1818653565
• gnomAD v3: 7-87584585-C-CCAGAAATTACAT
• gnomAD v4: 7-87584585-C-CCAGAAATTACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87584586_87584587insAGAAATTACATC , CM000669.2:g.87584586_87584587insAGAAATTACATC	GRCh38
NC_000007.13:g.87213902_87213903insAGAAATTACATC , CM000669.1:g.87213902_87213903insAGAAATTACATC	GRCh37
NC_000007.12:g.87051838_87051839insAGAAATTACATC	NCBI36
NG_011513.1:g.133663_133664insATGTAATTTCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.286+926_286+927insATGTAATTTCTG	ENSP00000265724.3:n.286+926_286+927insATGTAATTTCTG
ENST00000622132.5:c.286+926_286+927insATGTAATTTCTG MANE Select	ENSP00000478255.1:n.286+926_286+927insATGTAATTTCTG
ENST00000265724.7:c.286+926_286+927insATGTAATTTCTG	ENSP00000265724.3:n.286+926_286+927insATGTAATTTCTG
ENST00000543898.5:c.286+926_286+927insATGTAATTTCTG	ENSP00000444095.1:n.286+926_286+927insATGTAATTTCTG
ENST00000622132.4:c.286+926_286+927insATGTAATTTCTG	ENSP00000478255.1:n.286+926_286+927insATGTAATTTCTG
NM_000927.4:c.286+926_286+927insATGTAATTTCTG	NP_000918.2:n.286+926_286+927insATGTAATTTCTG
NM_001348944.1:c.286+926_286+927insATGTAATTTCTG	NP_001335873.1:n.286+926_286+927insATGTAATTTCTG
NM_001348945.1:c.496+926_496+927insATGTAATTTCTG	NP_001335874.1:n.496+926_496+927insATGTAATTTCTG
NM_001348946.1:c.286+926_286+927insATGTAATTTCTG	NP_001335875.1:n.286+926_286+927insATGTAATTTCTG
NM_001348946.2:c.286+926_286+927insATGTAATTTCTG MANE Select	NP_001335875.1:n.286+926_286+927insATGTAATTTCTG
NM_000927.5:c.286+926_286+927insATGTAATTTCTG	NP_000918.2:n.286+926_286+927insATGTAATTTCTG
NM_001348944.2:c.286+926_286+927insATGTAATTTCTG	NP_001335873.1:n.286+926_286+927insATGTAATTTCTG
NM_001348945.2:c.496+926_496+927insATGTAATTTCTG	NP_001335874.1:n.496+926_496+927insATGTAATTTCTG