Canonical Allele Identifier: CA2654756013

Gene: CSTB

Linked Data

• gnomAD v4: 21-43776139-GCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776148_43776196del , CM000683.2:g.43776148_43776196del	GRCh38
NC_000021.8:g.45196029_45196077del , CM000683.1:g.45196029_45196077del	GRCh37
NC_000021.7:g.44020457_44020505del	NCBI36
NG_011545.1:g.5191_5239del , LRG_485:g.5191_5239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.66+16_66+64del MANE Select	ENSP00000291568.6:n.66+16_66+64del
ENST00000480147.3:n.81_129del
ENST00000639959.1:c.35+16_35+64del
ENST00000640406.1:c.66+16_66+64del	ENSP00000492672.1:n.66+16_66+64del
ENST00000675996.1:n.143_191del
ENST00000291568.5:c.66+16_66+64del	ENSP00000291568.5:n.66+16_66+64del
ENST00000480147.1:n.103+16_103+64del
NM_000100.3:c.66+16_66+64del , LRG_485t1:c.66+16_66+64del	NP_000091.1:n.66+16_66+64del
NM_000100.4:c.66+16_66+64del MANE Select	NP_000091.1:n.66+16_66+64del