Canonical Allele Identifier: CA2586252216

Gene: IZUMO1

Linked Data

• gnomAD v4: 19-48745368-GAGGCCACTGGGCAAAGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745374_48745391del , CM000681.2:g.48745374_48745391del	GRCh38
NC_000019.9:g.49248631_49248648del , CM000681.1:g.49248631_49248648del	GRCh37
NC_000019.8:g.53940443_53940460del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000332955.7:c.236-98_236-81del MANE Select	ENSP00000327786.2:n.236-98_236-81del
ENST00000332955.6:c.236-98_236-81del	ENSP00000327786.2:n.236-98_236-81del
ENST00000595517.5:c.169-98_169-81del	ENSP00000471815.1:n.169-98_169-81del
ENST00000595937.5:c.236-98_236-81del	ENSP00000470144.1:n.236-98_236-81del
ENST00000597553.1:n.795_812del
ENST00000602105.1:c.-104-98_-104-81del	ENSP00000471134.1:n.-104-98_-104-81del
NM_182575.2:c.236-98_236-81del	NP_872381.2:n.236-98_236-81del
XM_005258793.3:c.314-98_314-81del	XP_005258850.1:n.314-98_314-81del
XM_005258797.3:c.-104-98_-104-81del	XP_005258854.1:n.-104-98_-104-81del
XM_005258798.3:c.-104-98_-104-81del	XP_005258855.1:n.-104-98_-104-81del
XM_011526811.1:c.335-98_335-81del	XP_011525113.1:n.335-98_335-81del
XM_011526812.1:c.236-98_236-81del	XP_011525114.1:n.236-98_236-81del
XM_011526813.1:c.236-98_236-81del	XP_011525115.1:n.236-98_236-81del
XM_011526814.1:c.43+96_44-81del	XP_011525116.1:n.43+96_44-81del
XM_011526815.1:c.-104-98_-104-81del	XP_011525117.1:n.-104-98_-104-81del
XM_011526816.1:c.-104-98_-104-81del	XP_011525118.1:n.-104-98_-104-81del
XM_011526817.1:c.-104-98_-104-81del	XP_011525119.1:n.-104-98_-104-81del
XR_243923.2:n.1249-98_1249-81del
XR_430196.2:n.1249-98_1249-81del
XR_935799.1:n.1249-98_1249-81del
NM_001321864.1:c.-104-98_-104-81del	NP_001308793.1:n.-104-98_-104-81del
NM_001321865.1:c.-324-98_-324-81del	NP_001308794.1:n.-324-98_-324-81del
NR_135832.1:n.242-98_242-81del
NM_182575.3:c.236-98_236-81del MANE Select	NP_872381.2:n.236-98_236-81del