Canonical Allele Identifier: CA2586252259

Gene: IZUMO1

Linked Data

• gnomAD v4: 19-48745405-AGCCGCCCGTTGCCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745406_48745421del , CM000681.2:g.48745406_48745421del	GRCh38
NC_000019.9:g.49248663_49248678del , CM000681.1:g.49248663_49248678del	GRCh37
NC_000019.8:g.53940475_53940490del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.236-133_236-118del MANE Select	ENSP00000327786.2:n.236-133_236-118del
ENST00000332955.6:c.236-133_236-118del	ENSP00000327786.2:n.236-133_236-118del
ENST00000595517.5:c.169-133_169-118del	ENSP00000471815.1:n.169-133_169-118del
ENST00000595937.5:c.236-133_236-118del	ENSP00000470144.1:n.236-133_236-118del
ENST00000597553.1:n.760_775del
ENST00000602105.1:c.-104-133_-104-118del	ENSP00000471134.1:n.-104-133_-104-118del
NM_182575.2:c.236-133_236-118del	NP_872381.2:n.236-133_236-118del
XM_005258793.3:c.314-133_314-118del	XP_005258850.1:n.314-133_314-118del
XM_005258797.3:c.-104-133_-104-118del	XP_005258854.1:n.-104-133_-104-118del
XM_005258798.3:c.-104-133_-104-118del	XP_005258855.1:n.-104-133_-104-118del
XM_011526811.1:c.335-133_335-118del	XP_011525113.1:n.335-133_335-118del
XM_011526812.1:c.236-133_236-118del	XP_011525114.1:n.236-133_236-118del
XM_011526813.1:c.236-133_236-118del	XP_011525115.1:n.236-133_236-118del
XM_011526814.1:c.43+61_43+76del	XP_011525116.1:n.43+61_43+76del
XM_011526815.1:c.-105+65_-105+80del	XP_011525117.1:n.-105+65_-105+80del
XM_011526816.1:c.-104-133_-104-118del	XP_011525118.1:n.-104-133_-104-118del
XM_011526817.1:c.-104-133_-104-118del	XP_011525119.1:n.-104-133_-104-118del
XR_243923.2:n.1249-133_1249-118del
XR_430196.2:n.1249-133_1249-118del
XR_935799.1:n.1249-133_1249-118del
NM_001321864.1:c.-104-133_-104-118del	NP_001308793.1:n.-104-133_-104-118del
NM_001321865.1:c.-324-133_-324-118del	NP_001308794.1:n.-324-133_-324-118del
NR_135832.1:n.242-133_242-118del
NM_182575.3:c.236-133_236-118del MANE Select	NP_872381.2:n.236-133_236-118del