Canonical Allele Identifier: CA120295311

Gene: NT5ELP

Linked Data

• dbSNP Id: rs11345787
• gnomAD v2: 5-63742279-CA-C
• gnomAD v3: 5-64446452-CA-C
• gnomAD v4: 5-64446452-CA-C
• MyVariant Identifiers: chr5:g.63742280del (hg19) ; chr5:g.64446453del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.64446460del , CM000667.2:g.64446460del	GRCh38
NC_000005.9:g.63742287del , CM000667.1:g.63742287del	GRCh37
NC_000005.8:g.63778043del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438016.2:n.222+4218del