Canonical Allele Identifier: CA1104120523

Gene: ABCB1

Linked Data

• gnomAD v3: 7-87516731-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 7-87516731-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516754_87516755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.87516754_87516755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000007.13:g.87146070_87146071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.87146070_87146071insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000007.12:g.86984006_86984007insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_011513.1:g.201517_201518insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

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