Canonical Allele Identifier: CA2661802900

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168923258-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923262_168923264del , CM000664.2:g.168923262_168923264del	GRCh38
NC_000002.11:g.169779772_169779774del , CM000664.1:g.169779772_169779774del	GRCh37
NC_000002.10:g.169488018_169488020del	NCBI36
NG_007374.1:g.113063_113065del
NG_007374.2:g.113136_113138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000648875.1:c.226+1396_226+1398del
ENST00000649448.1:c.2704_2706del	ENSP00000497165.1:n.2704_2706del
ENST00000650372.1:c.*361_*363del MANE Select	ENSP00000497931.1:n.*361_*363del
ENST00000263817.6:c.*361_*363del	ENSP00000263817.6:n.*361_*363del
NM_003742.2:c.*361_*363del	NP_003733.2:n.*361_*363del
XM_006712817.2:c.*361_*363del	XP_006712880.1:n.*361_*363del
XM_011512077.1:c.*361_*363del	XP_011510379.1:n.*361_*363del
XM_011512078.1:c.*315_*317del	XP_011510380.1:n.*315_*317del
XM_011512079.1:c.*361_*363del	XP_011510381.1:n.*361_*363del
XM_011512081.1:c.*361_*363del	XP_011510383.1:n.*361_*363del
NM_003742.4:c.*361_*363del MANE Select	NP_003733.2:n.*361_*363del
XM_006712817.3:c.*361_*363del	XP_006712880.1:n.*361_*363del
XM_011512077.2:c.*361_*363del	XP_011510379.1:n.*361_*363del
XM_011512078.2:c.*315_*317del	XP_011510380.1:n.*315_*317del
XM_011512081.2:c.*361_*363del	XP_011510383.1:n.*361_*363del
XM_017005165.1:c.3867+1396_3867+1398del	XP_016860654.1:n.3867+1396_3867+1398del
XM_017005166.1:c.*361_*363del	XP_016860655.1:n.*361_*363del
XM_017005167.1:c.*361_*363del	XP_016860656.1:n.*361_*363del