Canonical Allele Identifier: CA2614932012

Gene: INPPL1

Linked Data

• gnomAD v4: 11-72229950-C-CTCCACAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72229951_72229959dup , CM000673.2:g.72229951_72229959dup	GRCh38
NC_000011.9:g.71940995_71941003dup , CM000673.1:g.71940995_71941003dup	GRCh37
NC_000011.8:g.71618643_71618651dup	NCBI36
NG_023253.1:g.10114_10122dup
NG_023253.2:g.10114_10122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298229.7:c.871_879dup MANE Select	ENSP00000298229.2:p.Ala293_Pro294insSerThrAla
ENST00000298229.6:c.871_879dup	ENSP00000298229.2:p.Ala293_Pro294insSerThrAla
ENST00000538751.5:c.145_153dup	ENSP00000444619.1:p.Ala51_Pro52insSerThrAla
ENST00000540329.5:c.55_63dup	ENSP00000440018.1:p.Ala21_Pro22insSerThrAla
ENST00000541756.5:c.673_681dup	ENSP00000446360.2:p.Ala227_Pro228insSerThrAla
NM_001567.3:c.871_879dup	NP_001558.3:p.Ala293_Pro294insSerThrAla
XM_005273978.3:c.937_945dup	XP_005274035.1:p.Ala315_Pro316insSerThrAla
XM_005273979.3:c.937_945dup	XP_005274036.1:p.Ala315_Pro316insSerThrAla
XM_011544999.1:c.871_879dup	XP_011543301.1:p.Ala293_Pro294insSerThrAla
XM_011545000.1:c.937_945dup	XP_011543302.1:p.Ala315_Pro316insSerThrAla
XM_005273979.4:c.937_945dup	XP_005274036.1:p.Ala315_Pro316insSerThrAla
XM_011544999.2:c.871_879dup	XP_011543301.1:p.Ala293_Pro294insSerThrAla
XM_024448501.1:c.937_945dup	XP_024304269.1:p.Ala315_Pro316insSerThrAla
XM_024448502.1:c.937_945dup	XP_024304270.1:p.Ala315_Pro316insSerThrAla
XM_024448503.1:c.907_915dup	XP_024304271.1:p.Ala305_Pro306insSerThrAla
XM_024448504.1:c.871_879dup	XP_024304272.1:p.Ala293_Pro294insSerThrAla
XM_024448505.1:c.937_945dup	XP_024304273.1:p.Ala315_Pro316insSerThrAla
NM_001567.4:c.871_879dup MANE Select	NP_001558.3:p.Ala293_Pro294insSerThrAla