Canonical Allele Identifier: CA10638143
Gene: MIP HGNC NCBI

Linked Data

ClinVar Variation Id: 309863
ClinVar RCV Id: RCV000372428
dbSNP Id: rs111463603
gnomAD v2: 12-56843825-C-CA
gnomAD v3: 12-56450041-C-CA
gnomAD v4: 12-56450041-C-CA
MyVariant Identifiers: chr12:g.56843826dupA (hg19) chr12:g.56843826_56843827insA (hg19) chr12:g.56843825_56843826insA (hg19) chr12:g.56450042dupA (hg38) chr12:g.56450042_56450043insA (hg38) chr12:g.56450041_56450042insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56450052dup , CM000674.2:g.56450052dup GRCh38
NC_000012.11:g.56843836dup , CM000674.1:g.56843836dup GRCh37
NC_000012.10:g.55130103dup NCBI36
NG_021397.1:g.9610dup
NG_021397.2:g.24125dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648304.1:c.*1654dup ENSP00000497190.1:n.*1654dup
ENST00000652304.1:c.*1238dup MANE Select ENSP00000498622.1:n.*1238dup
ENST00000257979.4:c.*1238dup ENSP00000257979.4:n.*1238dup
NM_012064.3:c.*1238dup NP_036196.1:n.*1238dup
XM_011538354.1:c.*1238dup XP_011536656.1:n.*1238dup
NM_012064.4:c.*1238dup MANE Select NP_036196.1:n.*1238dup
XM_017019306.1:c.*1238dup XP_016874795.1:n.*1238dup
Search 100 bp 5'
Search 100 bp 3'