Canonical Allele Identifier: CA948006141

Gene: MIP

Linked Data

• dbSNP Id: rs1868536886
• gnomAD v3: 12-56450049-A-AAG
• gnomAD v4: 12-56450049-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56450050_56450051insGA , CM000674.2:g.56450050_56450051insGA	GRCh38
NC_000012.11:g.56843834_56843835insGA , CM000674.1:g.56843834_56843835insGA	GRCh37
NC_000012.10:g.55130101_55130102insGA	NCBI36
NG_021397.1:g.9602_9603insCT
NG_021397.2:g.24117_24118insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.*1646_*1647insCT	ENSP00000497190.1:n.*1646_*1647insCT
ENST00000652304.1:c.*1230_*1231insCT MANE Select	ENSP00000498622.1:n.*1230_*1231insCT
ENST00000257979.4:c.*1230_*1231insCT	ENSP00000257979.4:n.*1230_*1231insCT
NM_012064.3:c.*1230_*1231insCT	NP_036196.1:n.*1230_*1231insCT
XM_011538354.1:c.*1230_*1231insCT	XP_011536656.1:n.*1230_*1231insCT
NM_012064.4:c.*1230_*1231insCT MANE Select	NP_036196.1:n.*1230_*1231insCT
XM_017019306.1:c.*1230_*1231insCT	XP_016874795.1:n.*1230_*1231insCT