Canonical Allele Identifier: CA237639896

Gene: MIP

Linked Data

• dbSNP Id: rs1023519427
• gnomAD v2: 12-56843880-C-CATTT
• gnomAD v3: 12-56450096-C-CATTT
• gnomAD v4: 12-56450096-C-CATTT
• MyVariant Identifiers: chr12:g.56843880_56843881insATTT (hg19) ; chr12:g.56450096_56450097insATTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56450097_56450100dup , CM000674.2:g.56450097_56450100dup	GRCh38
NC_000012.11:g.56843881_56843884dup , CM000674.1:g.56843881_56843884dup	GRCh37
NC_000012.10:g.55130148_55130151dup	NCBI36
NG_021397.1:g.9552_9555dup
NG_021397.2:g.24067_24070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.*1596_*1599dup	ENSP00000497190.1:n.*1596_*1599dup
ENST00000652304.1:c.*1180_*1183dup MANE Select	ENSP00000498622.1:n.*1180_*1183dup
ENST00000257979.4:c.*1180_*1183dup	ENSP00000257979.4:n.*1180_*1183dup
NM_012064.3:c.*1180_*1183dup	NP_036196.1:n.*1180_*1183dup
XM_011538354.1:c.*1180_*1183dup	XP_011536656.1:n.*1180_*1183dup
NM_012064.4:c.*1180_*1183dup MANE Select	NP_036196.1:n.*1180_*1183dup
XM_017019306.1:c.*1180_*1183dup	XP_016874795.1:n.*1180_*1183dup