Canonical Allele Identifier: CA2683605404

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87516737-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516754_87516755insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT , CM000669.2:g.87516754_87516755insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	GRCh38
NC_000007.13:g.87146070_87146071insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT , CM000669.1:g.87146070_87146071insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	GRCh37
NC_000007.12:g.86984006_86984007insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	NCBI36
NG_011513.1:g.201511_201512insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000265724.3:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAA...
ENST00000622132.5:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000478255.1:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAA...
ENST00000265724.7:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000265724.3:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAA...
ENST00000475929.5:n.84-73_84-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000483831.1:n.486-73_486-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000488737.6:n.570-73_570-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000496821.5:n.556-73_556-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000543898.5:c.2736-73_2736-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000444095.1:n.2736-73_2736-72insCAAAAAAAAAAAAAAAAAAAAAA...
ENST00000622132.4:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000478255.1:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAA...
NM_000927.4:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_000918.2:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001348944.1:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001335873.1:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001348945.1:c.3138-73_3138-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001335874.1:n.3138-73_3138-72insCAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001348946.1:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001335875.1:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001348946.2:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_001335875.1:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_000927.5:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_000918.2:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001348944.2:c.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001335873.1:n.2928-73_2928-72insCAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001348945.2:c.3138-73_3138-72insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001335874.1:n.3138-73_3138-72insCAAAAAAAAAAAAAAAAAAAAAAAAA...