Canonical Allele Identifier: CA2683605418

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87516747-T-TTTTTTTTTTTTTTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516754_87516755insTTTTTTTTTTTATTTTTTT , CM000669.2:g.87516754_87516755insTTTTTTTTTTTATTTTTTT	GRCh38
NC_000007.13:g.87146070_87146071insTTTTTTTTTTTATTTTTTT , CM000669.1:g.87146070_87146071insTTTTTTTTTTTATTTTTTT	GRCh37
NC_000007.12:g.86984006_86984007insTTTTTTTTTTTATTTTTTT	NCBI36
NG_011513.1:g.201501_201502insTAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	ENSP00000265724.3:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
ENST00000622132.5:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000478255.1:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
ENST00000265724.7:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	ENSP00000265724.3:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
ENST00000475929.5:n.84-83_84-82insTAAAAAAAAAAAAAAAAAA
ENST00000483831.1:n.486-83_486-82insTAAAAAAAAAAAAAAAAAA
ENST00000488737.6:n.570-83_570-82insTAAAAAAAAAAAAAAAAAA
ENST00000496821.5:n.556-83_556-82insTAAAAAAAAAAAAAAAAAA
ENST00000543898.5:c.2736-83_2736-82insTAAAAAAAAAAAAAAAAAA	ENSP00000444095.1:n.2736-83_2736-82insTAAAAAAAAAAAAAAAAAA
ENST00000622132.4:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	ENSP00000478255.1:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_000927.4:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	NP_000918.2:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_001348944.1:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	NP_001335873.1:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_001348945.1:c.3138-83_3138-82insTAAAAAAAAAAAAAAAAAA	NP_001335874.1:n.3138-83_3138-82insTAAAAAAAAAAAAAAAAAA
NM_001348946.1:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	NP_001335875.1:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_001348946.2:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA MANE Select	NP_001335875.1:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_000927.5:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	NP_000918.2:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_001348944.2:c.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA	NP_001335873.1:n.2928-83_2928-82insTAAAAAAAAAAAAAAAAAA
NM_001348945.2:c.3138-83_3138-82insTAAAAAAAAAAAAAAAAAA	NP_001335874.1:n.3138-83_3138-82insTAAAAAAAAAAAAAAAAAA