Canonical Allele Identifier: CA2695208081

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402252_87402257del , CM000669.2:g.87402252_87402257del	GRCh38
NC_000007.13:g.87031568_87031573del , CM000669.1:g.87031568_87031573del	GRCh37
NC_000007.12:g.86869504_86869509del	NCBI36
NG_007118.1:g.83180_83185del
NG_007118.2:g.83180_83185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3683_3688del	ENSP00000352135.3:p.Val1228_Ile1229del
ENST00000649586.2:c.3683_3688del MANE Select	ENSP00000496956.2:p.Val1228_Ile1229del
ENST00000265723.8:c.3704_3709del	ENSP00000265723.4:p.Val1235_Ile1236del
ENST00000358400.7:c.3542_3547del	ENSP00000351172.3:p.Val1181_Ile1182del
ENST00000359206.7:c.3683_3688del	ENSP00000352135.3:p.Val1228_Ile1229del
ENST00000440025.1:c.117_122del
ENST00000453593.5:c.3542_3547del	ENSP00000392983.1:p.Val1181_Ile1182del
ENST00000467983.1:n.295_300del
NM_000443.3:c.3683_3688del	NP_000434.1:p.Val1228_Ile1229del
NM_018849.2:c.3704_3709del	NP_061337.1:p.Val1235_Ile1236del
NM_018850.2:c.3542_3547del	NP_061338.1:p.Val1181_Ile1182del
XM_011516308.1:c.3704_3709del	XP_011514610.1:p.Val1235_Ile1236del
XM_011516309.1:c.3683_3688del	XP_011514611.1:p.Val1228_Ile1229del
XM_011516310.1:c.3599_3604del	XP_011514612.1:p.Val1200_Ile1201del
XM_011516311.1:c.3575_3580del	XP_011514613.1:p.Val1192_Ile1193del
XM_011516312.1:c.3563_3568del	XP_011514614.1:p.Val1188_Ile1189del
XM_011516313.1:c.3542_3547del	XP_011514615.1:p.Val1181_Ile1182del
XM_011516314.1:c.3725_3730del	XP_011514616.1:p.Val1242_Ile1243del
XM_011516315.1:c.3044_3049del	XP_011514617.1:p.Val1015_Ile1016del
XM_011516308.3:c.3974_3979del	XP_011514610.3:p.Val1325_Ile1326del
XM_011516309.3:c.3953_3958del	XP_011514611.3:p.Val1318_Ile1319del
XM_011516310.3:c.3869_3874del	XP_011514612.3:p.Val1290_Ile1291del
XM_011516311.3:c.3845_3850del	XP_011514613.3:p.Val1282_Ile1283del
XM_011516312.3:c.3833_3838del	XP_011514614.3:p.Val1278_Ile1279del
XM_011516313.3:c.3812_3817del	XP_011514615.2:p.Val1271_Ile1272del
XM_011516315.3:c.3044_3049del	XP_011514617.2:p.Val1015_Ile1016del
XM_017012323.2:c.3704_3709del	XP_016867812.1:p.Val1235_Ile1236del
XR_001744809.2:n.4212_4217del
NM_000443.4:c.3683_3688del MANE Select	NP_000434.1:p.Val1228_Ile1229del
NM_018849.3:c.3704_3709del	NP_061337.1:p.Val1235_Ile1236del
NM_018850.3:c.3542_3547del	NP_061338.1:p.Val1181_Ile1182del