Canonical Allele Identifier: CA2615961698

Gene: CRYAB

Linked Data

• gnomAD v4: 11-111909946-TTAATTGGTCTGGAGTAGTGCTCGCTTCGGCAGCACATATGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111909963_111910003del , CM000673.2:g.111909963_111910003del	GRCh38
NC_000011.9:g.111780687_111780727del , CM000673.1:g.111780687_111780727del	GRCh37
NC_000011.8:g.111285897_111285937del	NCBI36
NG_009824.2:g.18736_18776del
NG_033080.1:g.2228_2268del
NG_009824.3:g.18736_18776del
NG_033080.2:g.2228_2268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526167.5:c.123+340_123+380del	ENSP00000434793.1:n.123+340_123+380del
ENST00000526180.6:c.324+340_324+380del	ENSP00000436051.1:n.324+340_324+380del
ENST00000527899.6:c.324+340_324+380del	ENSP00000436089.2:n.324+340_324+380del
ENST00000528961.6:c.123+340_123+380del	ENSP00000435960.1:n.123+340_123+380del
ENST00000533280.6:c.123+340_123+380del	ENSP00000435046.1:n.123+340_123+380del
ENST00000533475.6:c.324+340_324+380del	ENSP00000433560.1:n.324+340_324+380del
ENST00000533879.2:c.324+340_324+380del	ENSP00000435931.2:n.324+340_324+380del
ENST00000533971.2:c.*196_*236del	ENSP00000434269.1:n.*196_*236del
ENST00000616970.5:c.324+340_324+380del	ENSP00000483554.1:n.324+340_324+380del
ENST00000650687.2:c.324+340_324+380del MANE Select	ENSP00000499082.1:n.324+340_324+380del
ENST00000651164.1:c.324+340_324+380del	ENSP00000498735.1:n.324+340_324+380del
ENST00000651650.1:c.123+340_123+380del	ENSP00000498749.1:n.123+340_123+380del
ENST00000652223.1:n.2050_2090del
ENST00000652606.1:n.1642+340_1642+380del
ENST00000227251.7:c.324+340_324+380del	ENSP00000227251.3:n.324+340_324+380del
ENST00000525823.1:c.123+340_123+380del	ENSP00000435411.1:n.123+340_123+380del
ENST00000526167.4:c.123+340_123+380del	ENSP00000434793.1:n.123+340_123+380del
ENST00000526180.5:c.324+340_324+380del	ENSP00000436051.1:n.324+340_324+380del
ENST00000527899.5:c.324+340_324+380del	ENSP00000436089.1:n.324+340_324+380del
ENST00000527950.5:c.324+340_324+380del	ENSP00000437149.1:n.324+340_324+380del
ENST00000528961.5:c.123+340_123+380del	ENSP00000435960.1:n.123+340_123+380del
ENST00000529647.5:c.324+340_324+380del	ENSP00000431754.1:n.324+340_324+380del
ENST00000531198.5:c.324+340_324+380del	ENSP00000434247.1:n.324+340_324+380del
ENST00000533280.5:c.123+340_123+380del	ENSP00000435046.1:n.123+340_123+380del
ENST00000533475.5:c.324+340_324+380del	ENSP00000433560.1:n.324+340_324+380del
ENST00000533971.1:c.*196_*236del	ENSP00000434269.1:n.*196_*236del
ENST00000616970.4:c.324+340_324+380del	ENSP00000483554.1:n.324+340_324+380del
NM_001289807.1:c.324+340_324+380del	NP_001276736.1:n.324+340_324+380del
NM_001289808.1:c.324+340_324+380del	NP_001276737.1:n.324+340_324+380del
NM_001885.2:c.324+340_324+380del	NP_001876.1:n.324+340_324+380del
XM_011542608.1:c.324+340_324+380del	XP_011540910.1:n.324+340_324+380del
XM_011542609.1:c.123+340_123+380del	XP_011540911.1:n.123+340_123+380del
NM_001330379.1:c.123+340_123+380del	NP_001317308.1:n.123+340_123+380del
NM_001289808.2:c.324+340_324+380del MANE Select	NP_001276737.1:n.324+340_324+380del
NM_001368245.1:c.324+340_324+380del	NP_001355174.1:n.324+340_324+380del
NM_001368246.1:c.123+340_123+380del	NP_001355175.1:n.123+340_123+380del
NM_001885.3:c.324+340_324+380del	NP_001876.1:n.324+340_324+380del