Canonical Allele Identifier: CA942280284

Gene: CRYAB

Linked Data

• gnomAD v3: 11-111908743-ATGC-A
• gnomAD v4: 11-111908743-ATGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111908744_111908746del , CM000673.2:g.111908744_111908746del	GRCh38
NC_000011.9:g.111779468_111779470del , CM000673.1:g.111779468_111779470del	GRCh37
NC_000011.8:g.111284678_111284680del	NCBI36
NG_009824.2:g.19977_19979del
NG_033080.1:g.1009_1011del
NG_009824.3:g.19977_19979del
NG_033080.2:g.1009_1011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000526167.5:c.*25_*27del	ENSP00000434793.1:n.*25_*27del
ENST00000526180.6:c.*18_*20del	ENSP00000436051.1:n.*18_*20del
ENST00000527899.6:c.*18_*20del	ENSP00000436089.2:n.*18_*20del
ENST00000528961.6:c.*18_*20del	ENSP00000435960.1:n.*18_*20del
ENST00000533280.6:c.*18_*20del	ENSP00000435046.1:n.*18_*20del
ENST00000533475.6:c.*18_*20del	ENSP00000433560.1:n.*18_*20del
ENST00000533879.2:c.*18_*20del	ENSP00000435931.2:n.*18_*20del
ENST00000533971.2:c.*1437_*1439del	ENSP00000434269.1:n.*1437_*1439del
ENST00000616970.5:c.*18_*20del	ENSP00000483554.1:n.*18_*20del
ENST00000650687.2:c.*18_*20del MANE Select	ENSP00000499082.1:n.*18_*20del
ENST00000651164.1:c.*18_*20del	ENSP00000498735.1:n.*18_*20del
ENST00000651650.1:c.*18_*20del	ENSP00000498749.1:n.*18_*20del
ENST00000652223.1:n.3291_3293del
ENST00000652606.1:n.1864_1866del
ENST00000227251.7:c.*18_*20del	ENSP00000227251.3:n.*18_*20del
ENST00000524660.1:c.337_339del
ENST00000525823.1:c.*18_*20del	ENSP00000435411.1:n.*18_*20del
ENST00000526180.5:c.*18_*20del	ENSP00000436051.1:n.*18_*20del
ENST00000527950.5:c.*18_*20del	ENSP00000437149.1:n.*18_*20del
ENST00000531198.5:c.*18_*20del	ENSP00000434247.1:n.*18_*20del
ENST00000533280.5:c.*18_*20del	ENSP00000435046.1:n.*18_*20del
ENST00000533475.5:c.*18_*20del	ENSP00000433560.1:n.*18_*20del
ENST00000616970.4:c.*18_*20del	ENSP00000483554.1:n.*18_*20del
NM_001289807.1:c.*18_*20del	NP_001276736.1:n.*18_*20del
NM_001289808.1:c.*18_*20del	NP_001276737.1:n.*18_*20del
NM_001885.2:c.*18_*20del	NP_001876.1:n.*18_*20del
XM_011542608.1:c.*18_*20del	XP_011540910.1:n.*18_*20del
XM_011542609.1:c.*18_*20del	XP_011540911.1:n.*18_*20del
NM_001330379.1:c.*18_*20del	NP_001317308.1:n.*18_*20del
NM_001289808.2:c.*18_*20del MANE Select	NP_001276737.1:n.*18_*20del
NM_001368245.1:c.*18_*20del	NP_001355174.1:n.*18_*20del
NM_001368246.1:c.*18_*20del	NP_001355175.1:n.*18_*20del
NM_001885.3:c.*18_*20del	NP_001876.1:n.*18_*20del