Canonical Allele Identifier: CA605264524

Gene: MIP

Linked Data

• dbSNP Id: rs1312445712
• gnomAD v2: 12-56843764-A-ATCGTGCCTGTGAATTCAC
• gnomAD v3: 12-56449980-A-ATCGTGCCTGTGAATTCAC
• gnomAD v4: 12-56449980-A-ATCGTGCCTGTGAATTCAC
• MyVariant Identifiers: chr12:g.56843764_56843765insTCGTGCCTGTGAATTCAC (hg19) ; chr12:g.56449980_56449981insTCGTGCCTGTGAATTCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56449981_56449982insCGTGCCTGTGAATTCACT , CM000674.2:g.56449981_56449982insCGTGCCTGTGAATTCACT	GRCh38
NC_000012.11:g.56843765_56843766insCGTGCCTGTGAATTCACT , CM000674.1:g.56843765_56843766insCGTGCCTGTGAATTCACT	GRCh37
NC_000012.10:g.55130032_55130033insCGTGCCTGTGAATTCACT	NCBI36
NG_021397.1:g.9671_9672insGTGAATTCACAGGCACGA
NG_021397.2:g.24186_24187insGTGAATTCACAGGCACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.*1715_*1716insGTGAATTCACAGGCACGA	ENSP00000497190.1:n.*1715_*1716insGTGAATTCACAGGCACGA
ENST00000652304.1:c.*1299_*1300insGTGAATTCACAGGCACGA MANE Select	ENSP00000498622.1:n.*1299_*1300insGTGAATTCACAGGCACGA
ENST00000257979.4:c.*1299_*1300insGTGAATTCACAGGCACGA	ENSP00000257979.4:n.*1299_*1300insGTGAATTCACAGGCACGA
NM_012064.3:c.*1299_*1300insGTGAATTCACAGGCACGA	NP_036196.1:n.*1299_*1300insGTGAATTCACAGGCACGA
XM_011538354.1:c.*1299_*1300insGTGAATTCACAGGCACGA	XP_011536656.1:n.*1299_*1300insGTGAATTCACAGGCACGA
NM_012064.4:c.*1299_*1300insGTGAATTCACAGGCACGA MANE Select	NP_036196.1:n.*1299_*1300insGTGAATTCACAGGCACGA
XM_017019306.1:c.*1299_*1300insGTGAATTCACAGGCACGA	XP_016874795.1:n.*1299_*1300insGTGAATTCACAGGCACGA