Canonical Allele Identifier: CA948006062

Gene: MIP

Linked Data

• gnomAD v3: 12-56450034-CCCCTCT-C
• gnomAD v4: 12-56450034-CCCCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56450036_56450041del , CM000674.2:g.56450036_56450041del	GRCh38
NC_000012.11:g.56843820_56843825del , CM000674.1:g.56843820_56843825del	GRCh37
NC_000012.10:g.55130087_55130092del	NCBI36
NG_021397.1:g.9612_9617del
NG_021397.2:g.24127_24132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648304.1:c.*1656_*1661del	ENSP00000497190.1:n.*1656_*1661del
ENST00000652304.1:c.*1240_*1245del MANE Select	ENSP00000498622.1:n.*1240_*1245del
ENST00000257979.4:c.*1240_*1245del	ENSP00000257979.4:n.*1240_*1245del
NM_012064.3:c.*1240_*1245del	NP_036196.1:n.*1240_*1245del
XM_011538354.1:c.*1240_*1245del	XP_011536656.1:n.*1240_*1245del
NM_012064.4:c.*1240_*1245del MANE Select	NP_036196.1:n.*1240_*1245del
XM_017019306.1:c.*1240_*1245del	XP_016874795.1:n.*1240_*1245del