Canonical Allele Identifier: CA2683605389

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87516731-C-CTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516741_87516742insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.87516741_87516742insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000007.13:g.87146057_87146058insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.87146057_87146058insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000007.12:g.86983993_86983994insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_011513.1:g.201517_201518insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	ENSP00000265724.3:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAA...
ENST00000622132.5:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA MANE Select	ENSP00000478255.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAA...
ENST00000265724.7:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	ENSP00000265724.3:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAA...
ENST00000475929.5:n.84-67_84-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA
ENST00000483831.1:n.486-67_486-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA
ENST00000488737.6:n.570-67_570-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA
ENST00000496821.5:n.556-67_556-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA
ENST00000543898.5:c.2736-67_2736-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	ENSP00000444095.1:n.2736-67_2736-66insAAAAAAAAAAAAAAAAAAACAAA...
ENST00000622132.4:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	ENSP00000478255.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAA...
NM_000927.4:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_000918.2:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAA...
NM_001348944.1:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_001335873.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAA...
NM_001348945.1:c.3138-67_3138-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_001335874.1:n.3138-67_3138-66insAAAAAAAAAAAAAAAAAAACAAAAAA...
NM_001348946.1:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_001335875.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAA...
NM_001348946.2:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA MANE Select	NP_001335875.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAA...
NM_000927.5:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_000918.2:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAA...
NM_001348944.2:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_001335873.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAACAAAAAA...
NM_001348945.2:c.3138-67_3138-66insAAAAAAAAAAAAAAAAAAACAAAAAAAAAA	NP_001335874.1:n.3138-67_3138-66insAAAAAAAAAAAAAAAAAAACAAAAAA...