Canonical Allele Identifier: CA305553518
Gene: NACC1 HGNC NCBI

Linked Data

dbSNP Id: rs375417656
MyVariant Identifiers: chr19:g.13247007_13247010del (hg19) chr19:g.13136193_13136196del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13136193_13136196del , CM000681.2:g.13136193_13136196del GRCh38
NC_000019.9:g.13247007_13247010del , CM000681.1:g.13247007_13247010del GRCh37
NC_000019.8:g.13108007_13108010del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.947-39_947-36del ENSP00000467120.2:n.947-39_947-36del
ENST00000700232.1:c.947-39_947-36del ENSP00000514870.1:n.947-39_947-36del
ENST00000292431.5:c.947-39_947-36del MANE Select ENSP00000292431.3:n.947-39_947-36del
ENST00000292431.4:c.947-39_947-36del ENSP00000292431.3:n.947-39_947-36del
NM_052876.3:c.947-39_947-36del NP_443108.1:n.947-39_947-36del
XM_005259721.2:c.947-39_947-36del XP_005259778.1:n.947-39_947-36del
XM_005259721.3:c.947-39_947-36del XP_005259778.1:n.947-39_947-36del
NM_052876.4:c.947-39_947-36del MANE Select NP_443108.1:n.947-39_947-36del
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