Canonical Allele Identifier: CA2586252249

Gene: IZUMO1

Linked Data

• gnomAD v4: 19-48745396-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48745397_48745399del , CM000681.2:g.48745397_48745399del	GRCh38
NC_000019.9:g.49248654_49248656del , CM000681.1:g.49248654_49248656del	GRCh37
NC_000019.8:g.53940466_53940468del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332955.7:c.236-111_236-109del MANE Select	ENSP00000327786.2:n.236-111_236-109del
ENST00000332955.6:c.236-111_236-109del	ENSP00000327786.2:n.236-111_236-109del
ENST00000595517.5:c.169-111_169-109del	ENSP00000471815.1:n.169-111_169-109del
ENST00000595937.5:c.236-111_236-109del	ENSP00000470144.1:n.236-111_236-109del
ENST00000597553.1:n.782_784del
ENST00000602105.1:c.-104-111_-104-109del	ENSP00000471134.1:n.-104-111_-104-109del
NM_182575.2:c.236-111_236-109del	NP_872381.2:n.236-111_236-109del
XM_005258793.3:c.314-111_314-109del	XP_005258850.1:n.314-111_314-109del
XM_005258797.3:c.-104-111_-104-109del	XP_005258854.1:n.-104-111_-104-109del
XM_005258798.3:c.-104-111_-104-109del	XP_005258855.1:n.-104-111_-104-109del
XM_011526811.1:c.335-111_335-109del	XP_011525113.1:n.335-111_335-109del
XM_011526812.1:c.236-111_236-109del	XP_011525114.1:n.236-111_236-109del
XM_011526813.1:c.236-111_236-109del	XP_011525115.1:n.236-111_236-109del
XM_011526814.1:c.43+83_43+85del	XP_011525116.1:n.43+83_43+85del
XM_011526815.1:c.-105+87_-105+89del	XP_011525117.1:n.-105+87_-105+89del
XM_011526816.1:c.-104-111_-104-109del	XP_011525118.1:n.-104-111_-104-109del
XM_011526817.1:c.-104-111_-104-109del	XP_011525119.1:n.-104-111_-104-109del
XR_243923.2:n.1249-111_1249-109del
XR_430196.2:n.1249-111_1249-109del
XR_935799.1:n.1249-111_1249-109del
NM_001321864.1:c.-104-111_-104-109del	NP_001308793.1:n.-104-111_-104-109del
NM_001321865.1:c.-324-111_-324-109del	NP_001308794.1:n.-324-111_-324-109del
NR_135832.1:n.242-111_242-109del
NM_182575.3:c.236-111_236-109del MANE Select	NP_872381.2:n.236-111_236-109del