Canonical Allele Identifier: CA309384383

Gene: IZUMO1

Linked Data

• dbSNP Id: rs1040337755
• gnomAD v3: 19-48745405-AGCC-A
• gnomAD v4: 19-48745405-AGCC-A
• MyVariant Identifiers: chr19:g.49248663_49248665del (hg19) ; chr19:g.48745406_48745408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745409_48745411del , CM000681.2:g.48745409_48745411del	GRCh38
NC_000019.9:g.49248666_49248668del , CM000681.1:g.49248666_49248668del	GRCh37
NC_000019.8:g.53940478_53940480del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.236-120_236-118del MANE Select	ENSP00000327786.2:n.236-120_236-118del
ENST00000332955.6:c.236-120_236-118del	ENSP00000327786.2:n.236-120_236-118del
ENST00000595517.5:c.169-120_169-118del	ENSP00000471815.1:n.169-120_169-118del
ENST00000595937.5:c.236-120_236-118del	ENSP00000470144.1:n.236-120_236-118del
ENST00000597553.1:n.773_775del
ENST00000602105.1:c.-104-120_-104-118del	ENSP00000471134.1:n.-104-120_-104-118del
NM_182575.2:c.236-120_236-118del	NP_872381.2:n.236-120_236-118del
XM_005258793.3:c.314-120_314-118del	XP_005258850.1:n.314-120_314-118del
XM_005258797.3:c.-104-120_-104-118del	XP_005258854.1:n.-104-120_-104-118del
XM_005258798.3:c.-104-120_-104-118del	XP_005258855.1:n.-104-120_-104-118del
XM_011526811.1:c.335-120_335-118del	XP_011525113.1:n.335-120_335-118del
XM_011526812.1:c.236-120_236-118del	XP_011525114.1:n.236-120_236-118del
XM_011526813.1:c.236-120_236-118del	XP_011525115.1:n.236-120_236-118del
XM_011526814.1:c.43+74_43+76del	XP_011525116.1:n.43+74_43+76del
XM_011526815.1:c.-105+78_-105+80del	XP_011525117.1:n.-105+78_-105+80del
XM_011526816.1:c.-104-120_-104-118del	XP_011525118.1:n.-104-120_-104-118del
XM_011526817.1:c.-104-120_-104-118del	XP_011525119.1:n.-104-120_-104-118del
XR_243923.2:n.1249-120_1249-118del
XR_430196.2:n.1249-120_1249-118del
XR_935799.1:n.1249-120_1249-118del
NM_001321864.1:c.-104-120_-104-118del	NP_001308793.1:n.-104-120_-104-118del
NM_001321865.1:c.-324-120_-324-118del	NP_001308794.1:n.-324-120_-324-118del
NR_135832.1:n.242-120_242-118del
NM_182575.3:c.236-120_236-118del MANE Select	NP_872381.2:n.236-120_236-118del