Canonical Allele Identifier: CA2594908250

Gene: NEFL

Linked Data

• gnomAD v3: 8-24956817-TTC-T
• gnomAD v4: 8-24956817-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956821_24956822del , CM000670.2:g.24956821_24956822del	GRCh38
NC_000008.10:g.24814335_24814336del , CM000670.1:g.24814335_24814336del	GRCh37
NC_000008.9:g.24870252_24870253del	NCBI36
NG_008492.1:g.4799_4800del , LRG_259:g.4799_4800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.1:c.-304_-303del	ENSP00000482169.1:n.-304_-303del
NM_006158.4:c.-304_-303del , LRG_259t1:c.-304_-303del	NP_006149.2:n.-304_-303del