Canonical Allele Identifier: CA246490384

Gene: CRYL1

Linked Data

• dbSNP Id: rs34453641
• gnomAD v2: 13-21050493-CAA-C
• gnomAD v3: 13-20476354-CAA-C
• gnomAD v4: 13-20476354-CAA-C
• MyVariant Identifiers: chr13:g.21050495_21050496del (hg19) ; chr13:g.21050494_21050495del (hg19) ; chr13:g.20476356_20476357del (hg38) ; chr13:g.20476355_20476356del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20476370_20476371del , CM000675.2:g.20476370_20476371del	GRCh38
NC_000013.10:g.21050509_21050510del , CM000675.1:g.21050509_21050510del	GRCh37
NC_000013.9:g.19948509_19948510del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298248.12:c.276+13014_276+13015del MANE Select	ENSP00000298248.7:n.276+13014_276+13015del
ENST00000643035.1:c.*77+515_*77+516del	ENSP00000496154.1:n.*77+515_*77+516del
ENST00000643750.1:c.210+13014_210+13015del	ENSP00000493818.1:n.210+13014_210+13015del
ENST00000643887.1:c.276+13014_276+13015del	ENSP00000495342.1:n.276+13014_276+13015del
ENST00000644153.1:c.277-3282_277-3281del	ENSP00000494794.1:n.277-3282_277-3281del
ENST00000644167.1:c.276+13014_276+13015del	ENSP00000494114.1:n.276+13014_276+13015del
ENST00000644593.1:c.276+13014_276+13015del	ENSP00000493784.1:n.276+13014_276+13015del
ENST00000644872.1:n.233+13014_233+13015del
ENST00000298248.11:c.276+13014_276+13015del	ENSP00000298248.7:n.276+13014_276+13015del
ENST00000382812.5:c.210+13014_210+13015del	ENSP00000372262.1:n.210+13014_210+13015del
ENST00000480748.2:c.67+13014_67+13015del
NM_015974.2:c.276+13014_276+13015del	NP_057058.2:n.276+13014_276+13015del
XM_005266415.2:c.276+13014_276+13015del	XP_005266472.1:n.276+13014_276+13015del
XM_005266416.3:c.276+13014_276+13015del	XP_005266473.1:n.276+13014_276+13015del
XM_011535100.1:c.276+13014_276+13015del	XP_011533402.1:n.276+13014_276+13015del
XM_011535101.1:c.276+13014_276+13015del	XP_011533403.1:n.276+13014_276+13015del
NM_001363647.1:c.276+13014_276+13015del	NP_001350576.1:n.276+13014_276+13015del
XM_005266416.5:c.276+13014_276+13015del	XP_005266473.1:n.276+13014_276+13015del
XM_017020624.1:c.-88-3282_-88-3281del	XP_016876113.1:n.-88-3282_-88-3281del
NM_015974.3:c.276+13014_276+13015del MANE Select	NP_057058.2:n.276+13014_276+13015del
NM_001363647.2:c.276+13014_276+13015del	NP_001350576.1:n.276+13014_276+13015del