Canonical Allele Identifier: CA545637392

Gene: IQCB1

Linked Data

• dbSNP Id: rs1559755552
• gnomAD v2: 3-121500515-ATG-A
• gnomAD v3: 3-121781668-ATG-A
• gnomAD v4: 3-121781668-ATG-A
• MyVariant Identifiers: chr3:g.121500516_121500517del (hg19) ; chr3:g.121781669_121781670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121781680_121781681del , CM000665.2:g.121781680_121781681del	GRCh38
NC_000003.11:g.121500527_121500528del , CM000665.1:g.121500527_121500528del	GRCh37
NC_000003.10:g.122983217_122983218del	NCBI36
NG_015887.1:g.58410_58411del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310864.11:c.1410+73_1410+74del MANE Select	ENSP00000311505.6:n.1410+73_1410+74del
ENST00000310864.10:c.1410+73_1410+74del	ENSP00000311505.6:n.1410+73_1410+74del
ENST00000349820.10:c.1011+73_1011+74del	ENSP00000323756.7:n.1011+73_1011+74del
ENST00000393650.7:c.*388+73_*388+74del	ENSP00000377261.3:n.*388+73_*388+74del
NM_001023570.2:c.1410+73_1410+74del	NP_001018864.2:n.1410+73_1410+74del
NM_001023571.2:c.1011+73_1011+74del	NP_001018865.2:n.1011+73_1011+74del
XM_005247911.2:c.1410+73_1410+74del	XP_005247968.1:n.1410+73_1410+74del
XM_005247912.1:c.858+73_858+74del	XP_005247969.1:n.858+73_858+74del
XM_011513335.1:c.858+73_858+74del	XP_011511637.1:n.858+73_858+74del
XR_924221.1:n.1427+73_1427+74del
NM_001023570.3:c.1410+73_1410+74del	NP_001018864.2:n.1410+73_1410+74del
NM_001023571.3:c.1011+73_1011+74del	NP_001018865.2:n.1011+73_1011+74del
NM_001319107.1:c.1410+73_1410+74del	NP_001306036.1:n.1410+73_1410+74del
NR_134968.1:n.1514+73_1514+74del
XM_005247911.4:c.1410+73_1410+74del	XP_005247968.1:n.1410+73_1410+74del
XM_005247912.3:c.858+73_858+74del	XP_005247969.1:n.858+73_858+74del
XM_011513335.3:c.858+73_858+74del	XP_011511637.1:n.858+73_858+74del
XM_017007537.2:c.858+73_858+74del	XP_016863026.1:n.858+73_858+74del
XM_017007539.2:c.1011+73_1011+74del	XP_016863028.1:n.1011+73_1011+74del
XM_024453833.1:c.858+73_858+74del	XP_024309601.1:n.858+73_858+74del
XM_024453834.1:c.858+73_858+74del	XP_024309602.1:n.858+73_858+74del
XR_001740376.2:n.1389+73_1389+74del
XR_001740377.2:n.1389+73_1389+74del
XR_001740378.2:n.1428+73_1428+74del
XR_001740379.2:n.1279+73_1279+74del
XR_001740380.2:n.1428+73_1428+74del
XR_001740381.2:n.1279+73_1279+74del
NM_001023570.4:c.1410+73_1410+74del MANE Select	NP_001018864.2:n.1410+73_1410+74del
NM_001023571.4:c.1011+73_1011+74del	NP_001018865.2:n.1011+73_1011+74del
NM_001319107.2:c.1410+73_1410+74del	NP_001306036.1:n.1410+73_1410+74del
NR_134968.2:n.1495+73_1495+74del