Canonical Allele Identifier: CA777561189

Gene: MIB1

Linked Data

• dbSNP Id: rs1361105676
• MyVariant Identifiers: chr18:g.19395593_19395594insAGCA (hg19) ; chr18:g.21815632_21815633insAGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.21815633_21815636dup , CM000680.2:g.21815633_21815636dup	GRCh38
NC_000018.9:g.19395594_19395597dup , CM000680.1:g.19395594_19395597dup	GRCh37
NC_000018.8:g.17649592_17649595dup	NCBI36
NG_033272.2:g.115677_115680dup , LRG_759:g.115677_115680dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261537.7:c.1497_1500dup MANE Select	ENSP00000261537.6:p.Val501SerfsTer10
ENST00000261537.6:c.1497_1500dup	ENSP00000261537.6:p.Val501SerfsTer10
ENST00000577749.5:n.482_485dup
ENST00000578260.1:n.300_303dup
ENST00000578646.5:n.1474_1477dup
NM_020774.3:c.1497_1500dup , LRG_759t1:c.1497_1500dup	NP_065825.1:p.Val501SerfsTer10
XM_011526098.1:c.27_30dup	XP_011524400.1:p.Val11SerfsTer10
XR_935234.1:n.2617_2620dup
XR_935235.1:n.2540_2543dup
XM_017025873.1:c.981_984dup	XP_016881362.1:p.Val329SerfsTer10
NM_020774.4:c.1497_1500dup MANE Select	NP_065825.1:p.Val501SerfsTer10