Canonical Allele Identifier: CA4327869

Gene: ABCB1

Linked Data

• dbSNP Id: rs758207668
• ExAC: 7:87145800 CAAACAGTTG / C
• gnomAD v2: 7-87145800-CAAACAGTTG-C
• gnomAD v4: 7-87516484-CAAACAGTTG-C
• MyVariant Identifiers: chr7:g.87145801_87145809del (hg19) ; chr7:g.87516485_87516493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516490_87516498del , CM000669.2:g.87516490_87516498del	GRCh38
NC_000007.13:g.87145806_87145814del , CM000669.1:g.87145806_87145814del	GRCh37
NC_000007.12:g.86983742_86983750del	NCBI36
NG_011513.1:g.201756_201764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.3084+16_3084+24del	ENSP00000265724.3:n.3084+16_3084+24del
ENST00000622132.5:c.3084+16_3084+24del MANE Select	ENSP00000478255.1:n.3084+16_3084+24del
ENST00000265724.7:c.3084+16_3084+24del	ENSP00000265724.3:n.3084+16_3084+24del
ENST00000475929.5:n.240+16_240+24del
ENST00000488737.6:n.726+16_726+24del
ENST00000496821.5:n.712+16_712+24del
ENST00000543898.5:c.2892+16_2892+24del	ENSP00000444095.1:n.2892+16_2892+24del
ENST00000622132.4:c.3084+16_3084+24del	ENSP00000478255.1:n.3084+16_3084+24del
NM_000927.4:c.3084+16_3084+24del	NP_000918.2:n.3084+16_3084+24del
NM_001348944.1:c.3084+16_3084+24del	NP_001335873.1:n.3084+16_3084+24del
NM_001348945.1:c.3294+16_3294+24del	NP_001335874.1:n.3294+16_3294+24del
NM_001348946.1:c.3084+16_3084+24del	NP_001335875.1:n.3084+16_3084+24del
NM_001348946.2:c.3084+16_3084+24del MANE Select	NP_001335875.1:n.3084+16_3084+24del
NM_000927.5:c.3084+16_3084+24del	NP_000918.2:n.3084+16_3084+24del
NM_001348944.2:c.3084+16_3084+24del	NP_001335873.1:n.3084+16_3084+24del
NM_001348945.2:c.3294+16_3294+24del	NP_001335874.1:n.3294+16_3294+24del