Canonical Allele Identifier: CA1306205513

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923015_168923020delinsTTTCCC , CM000664.2:g.168923015_168923020delinsTTTCCC	GRCh38
NC_000002.11:g.169779525_169779530delinsTTTCCC , CM000664.1:g.169779525_169779530delinsTTTCCC	GRCh37
NC_000002.10:g.169487771_169487776delinsTTTCCC	NCBI36
NG_007374.1:g.113304_113309delinsGGGAAA
NG_007374.2:g.113377_113382delinsGGGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1637_226+1642delinsGGGAAA
ENST00000649448.1:c.2945_2950delinsGGGAAA	ENSP00000497165.1:n.2945_2950delinsGGGAAA
ENST00000650372.1:c.*602_*607delinsGGGAAA MANE Select	ENSP00000497931.1:n.*602_*607delinsGGGAAA
ENST00000263817.6:c.*602_*607delinsGGGAAA	ENSP00000263817.6:n.*602_*607delinsGGGAAA
NM_003742.2:c.*602_*607delinsGGGAAA	NP_003733.2:n.*602_*607delinsGGGAAA
XM_006712817.2:c.*602_*607delinsGGGAAA	XP_006712880.1:n.*602_*607delinsGGGAAA
XM_011512077.1:c.*602_*607delinsGGGAAA	XP_011510379.1:n.*602_*607delinsGGGAAA
XM_011512078.1:c.*556_*561delinsGGGAAA	XP_011510380.1:n.*556_*561delinsGGGAAA
XM_011512079.1:c.*602_*607delinsGGGAAA	XP_011510381.1:n.*602_*607delinsGGGAAA
XM_011512081.1:c.*602_*607delinsGGGAAA	XP_011510383.1:n.*602_*607delinsGGGAAA
NM_003742.4:c.*602_*607delinsGGGAAA MANE Select	NP_003733.2:n.*602_*607delinsGGGAAA
XM_006712817.3:c.*602_*607delinsGGGAAA	XP_006712880.1:n.*602_*607delinsGGGAAA
XM_011512077.2:c.*602_*607delinsGGGAAA	XP_011510379.1:n.*602_*607delinsGGGAAA
XM_011512078.2:c.*556_*561delinsGGGAAA	XP_011510380.1:n.*556_*561delinsGGGAAA
XM_011512081.2:c.*602_*607delinsGGGAAA	XP_011510383.1:n.*602_*607delinsGGGAAA
XM_017005165.1:c.3867+1637_3867+1642delinsGGGAAA	XP_016860654.1:n.3867+1637_3867+1642delinsGGGAAA
XM_017005166.1:c.*602_*607delinsGGGAAA	XP_016860655.1:n.*602_*607delinsGGGAAA
XM_017005167.1:c.*602_*607delinsGGGAAA	XP_016860656.1:n.*602_*607delinsGGGAAA