Canonical Allele Identifier: CA2697549213

Gene: MPI

Linked Data

• ClinVar Variation Id: 2744685
• ClinVar RCV Id: RCV003514802

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74890553_74890554insCTGGGGGA , CM000677.2:g.74890553_74890554insCTGGGGGA	GRCh38
NC_000015.9:g.75182894_75182895insCTGGGGGA , CM000677.1:g.75182894_75182895insCTGGGGGA	GRCh37
NC_000015.8:g.72969947_72969948insCTGGGGGA	NCBI36
NG_008921.1:g.5485_5486insCTGGGGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000352410.9:c.43_44insCTGGGGGA MANE Select	ENSP00000318318.6:p.Gln15ProfsTer?
ENST00000323744.10:c.43_44insCTGGGGGA	ENSP00000318192.6:p.Gln15ProfsTer?
ENST00000352410.8:c.43_44insCTGGGGGA	ENSP00000318318.6:p.Gln15ProfsTer?
ENST00000535694.5:c.-7+464_-7+465insCTGGGGGA	ENSP00000440447.1:n.-7+464_-7+465insCTGGG...
ENST00000561470.5:c.155_156insCTGGGGGA	ENSP00000454267.1:p.Val53TrpfsTer?
ENST00000562606.5:c.-18_-17insCTGGGGGA	ENSP00000457020.1:n.-18_-17insCTGGGGGA
ENST00000562800.5:c.43_44insCTGGGGGA	ENSP00000457619.1:p.Gln15ProfsTer?
ENST00000563422.5:c.43_44insCTGGGGGA	ENSP00000457885.1:p.Gln15ProfsTer?
ENST00000563786.5:c.-18_-17insCTGGGGGA	ENSP00000455241.1:n.-18_-17insCTGGGGGA
ENST00000564003.5:c.-7+464_-7+465insCTGGGGGA	ENSP00000454312.1:n.-7+464_-7+465insCTGGG...
ENST00000564633.5:c.-15-3_-15-2insCTGGGGGA	ENSP00000455383.1:n.-15-3_-15-2insCTGGGGG...
ENST00000565576.5:c.43_44insCTGGGGGA	ENSP00000454619.1:p.Gln15ProfsTer?
ENST00000566377.5:c.43_44insCTGGGGGA	ENSP00000455405.1:p.Gln15ProfsTer?
ENST00000567116.5:n.74_75insCTGGGGGA
ENST00000567132.5:c.43_44insCTGGGGGA	ENSP00000455972.1:p.Gln15ProfsTer?
ENST00000567177.1:c.4_5insCTGGGGGA	ENSP00000457013.1:p.Gln2ProfsTer?
ENST00000567570.5:c.-18_-17insCTGGGGGA	ENSP00000455477.1:n.-18_-17insCTGGGGGA
ENST00000568303.1:n.160_161insCTGGGGGA
ENST00000568828.5:c.43_44insCTGGGGGA	ENSP00000455065.1:p.Gln15ProfsTer?
ENST00000568840.1:n.152_153insCTGGGGGA
ENST00000568907.5:c.43_44insCTGGGGGA	ENSP00000457494.1:p.Gln15ProfsTer?
ENST00000569233.5:c.43_44insCTGGGGGA	ENSP00000454622.1:p.Gln15ProfsTer?
ENST00000569931.5:c.-18_-17insCTGGGGGA	ENSP00000455161.1:n.-18_-17insCTGGGGGA
NM_001289155.1:c.43_44insCTGGGGGA	NP_001276084.1:p.Gln15ProfsTer?
NM_001289156.1:c.-7+464_-7+465insCTGGGGGA	NP_001276085.1:n.-7+464_-7+465insCTGGGGGA...
NM_001289157.1:c.43_44insCTGGGGGA	NP_001276086.1:p.Gln15ProfsTer?
NM_002435.2:c.43_44insCTGGGGGA	NP_002426.1:p.Gln15ProfsTer?
XM_011521592.1:c.31_32insCTGGGGGA	XP_011519894.1:p.Gln11ProfsTer?
XM_011521593.1:c.-18_-17insCTGGGGGA	XP_011519895.1:n.-18_-17insCTGGGGGA
NM_001330372.1:c.-18_-17insCTGGGGGA	NP_001317301.1:n.-18_-17insCTGGGGGA
XM_017022208.1:c.-18_-17insCTGGGGGA	XP_016877697.1:n.-18_-17insCTGGGGGA
XM_017022209.2:c.-7+464_-7+465insCTGGGGGA	XP_016877698.1:n.-7+464_-7+465insCTGGGGGA...
NM_002435.3:c.43_44insCTGGGGGA MANE Select	NP_002426.1:p.Gln15ProfsTer?
NM_001289155.2:c.43_44insCTGGGGGA	NP_001276084.1:p.Gln15ProfsTer?
NM_001289156.2:c.-7+464_-7+465insCTGGGGGA	NP_001276085.1:n.-7+464_-7+465insCTGGGGGA...
NM_001289157.2:c.43_44insCTGGGGGA	NP_001276086.1:p.Gln15ProfsTer?
NM_001330372.2:c.-18_-17insCTGGGGGA	NP_001317301.1:n.-18_-17insCTGGGGGA