Canonical Allele Identifier: CA1052910697

Gene: IQCB1

Linked Data

• dbSNP Id: rs1948497606
• gnomAD v3: 3-121781653-ACACACACACAATATATGTG-A
• gnomAD v4: 3-121781653-ACACACACACAATATATGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121781654_121781672del , CM000665.2:g.121781654_121781672del	GRCh38
NC_000003.11:g.121500501_121500519del , CM000665.1:g.121500501_121500519del	GRCh37
NC_000003.10:g.122983191_122983209del	NCBI36
NG_015887.1:g.58408_58426del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310864.11:c.1410+71_1410+89del MANE Select	ENSP00000311505.6:n.1410+71_1410+89del
ENST00000310864.10:c.1410+71_1410+89del	ENSP00000311505.6:n.1410+71_1410+89del
ENST00000349820.10:c.1011+71_1011+89del	ENSP00000323756.7:n.1011+71_1011+89del
ENST00000393650.7:c.*388+71_*388+89del	ENSP00000377261.3:n.*388+71_*388+89del
NM_001023570.2:c.1410+71_1410+89del	NP_001018864.2:n.1410+71_1410+89del
NM_001023571.2:c.1011+71_1011+89del	NP_001018865.2:n.1011+71_1011+89del
XM_005247911.2:c.1410+71_1410+89del	XP_005247968.1:n.1410+71_1410+89del
XM_005247912.1:c.858+71_858+89del	XP_005247969.1:n.858+71_858+89del
XM_011513335.1:c.858+71_858+89del	XP_011511637.1:n.858+71_858+89del
XR_924221.1:n.1427+71_1427+89del
NM_001023570.3:c.1410+71_1410+89del	NP_001018864.2:n.1410+71_1410+89del
NM_001023571.3:c.1011+71_1011+89del	NP_001018865.2:n.1011+71_1011+89del
NM_001319107.1:c.1410+71_1410+89del	NP_001306036.1:n.1410+71_1410+89del
NR_134968.1:n.1514+71_1514+89del
XM_005247911.4:c.1410+71_1410+89del	XP_005247968.1:n.1410+71_1410+89del
XM_005247912.3:c.858+71_858+89del	XP_005247969.1:n.858+71_858+89del
XM_011513335.3:c.858+71_858+89del	XP_011511637.1:n.858+71_858+89del
XM_017007537.2:c.858+71_858+89del	XP_016863026.1:n.858+71_858+89del
XM_017007539.2:c.1011+71_1011+89del	XP_016863028.1:n.1011+71_1011+89del
XM_024453833.1:c.858+71_858+89del	XP_024309601.1:n.858+71_858+89del
XM_024453834.1:c.858+71_858+89del	XP_024309602.1:n.858+71_858+89del
XR_001740376.2:n.1389+71_1389+89del
XR_001740377.2:n.1389+71_1389+89del
XR_001740378.2:n.1428+71_1428+89del
XR_001740379.2:n.1279+71_1279+89del
XR_001740380.2:n.1428+71_1428+89del
XR_001740381.2:n.1279+71_1279+89del
NM_001023570.4:c.1410+71_1410+89del MANE Select	NP_001018864.2:n.1410+71_1410+89del
NM_001023571.4:c.1011+71_1011+89del	NP_001018865.2:n.1011+71_1011+89del
NM_001319107.2:c.1410+71_1410+89del	NP_001306036.1:n.1410+71_1410+89del
NR_134968.2:n.1495+71_1495+89del