Canonical Allele Identifier: CA1104126144

Gene: ABCB1

Linked Data

• gnomAD v3: 7-87530849-G-GCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA
• gnomAD v4: 7-87530849-G-GCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530849_87530850insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000669.2:g.87530849_87530850insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh38
NC_000007.13:g.87160165_87160166insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA , CM000669.1:g.87160165_87160166insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GRCh37
NC_000007.12:g.86998101_86998102insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NCBI36
NG_011513.1:g.187399_187400insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	ENSP00000265724.3:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTT...
ENST00000622132.5:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG MANE Select	ENSP00000478255.1:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTT...
ENST00000265724.7:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	ENSP00000265724.3:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTT...
ENST00000488737.6:n.327+444_327+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG
ENST00000496821.5:n.313+444_313+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG
ENST00000543898.5:c.2493+444_2493+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	ENSP00000444095.1:n.2493+444_2493+445insTTCTTTCTTTCTTTCTTTCTT...
ENST00000622132.4:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	ENSP00000478255.1:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTT...
NM_000927.4:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_000918.2:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTC...
NM_001348944.1:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_001335873.1:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCT...
NM_001348945.1:c.2895+444_2895+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_001335874.1:n.2895+444_2895+445insTTCTTTCTTTCTTTCTTTCTTTCT...
NM_001348946.1:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_001335875.1:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCT...
NM_001348946.2:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG MANE Select	NP_001335875.1:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCT...
NM_000927.5:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_000918.2:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTC...
NM_001348944.2:c.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_001335873.1:n.2685+444_2685+445insTTCTTTCTTTCTTTCTTTCTTTCT...
NM_001348945.2:c.2895+444_2895+445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTG	NP_001335874.1:n.2895+444_2895+445insTTCTTTCTTTCTTTCTTTCTTTCT...