Canonical Allele Identifier: CA838152810
Community Standard Title: NM_014800.11(ELMO1):c.414-3811_414-3804dup
Gene: ELMO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37248210_37248217dup , CM000669.2:g.37248210_37248217dup GRCh38
NC_000007.13:g.37287815_37287822dup , CM000669.1:g.37287815_37287822dup GRCh37
NC_000007.12:g.37254340_37254347dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014800.11:c.414-3811_414-3804dup MANE Select NP_055615.8:n.414-3811_414-3804dup
ENST00000310758.9:c.414-3811_414-3804dup MANE Select ENSP00000312185.4:n.414-3811_414-3804dup
NM_001206480.2:c.414-3811_414-3804dup NP_001193409.1:n.414-3811_414-3804dup
NM_001206482.1:c.414-3811_414-3804dup NP_001193411.1:n.414-3811_414-3804dup
NM_001206482.2:c.414-3811_414-3804dup NP_001193411.1:n.414-3811_414-3804dup
NM_014800.10:c.414-3811_414-3804dup NP_055615.8:n.414-3811_414-3804dup
ENST00000310758.8:c.414-3811_414-3804dup ENSP00000312185.4:n.414-3811_414-3804dup
ENST00000442504.5:c.414-3811_414-3804dup ENSP00000406952.1:n.414-3811_414-3804dup
ENST00000448602.5:c.414-3811_414-3804dup ENSP00000394458.1:n.414-3811_414-3804dup
ENST00000455119.5:c.413+10979_413+10986dup ENSP00000406610.1:n.413+10979_413+10986dup
ENST00000455879.5:c.414-3811_414-3804dup ENSP00000416090.1:n.414-3811_414-3804dup
XM_005249919.1:c.414-3811_414-3804dup XP_005249976.1:n.414-3811_414-3804dup
XM_005249919.3:c.414-3811_414-3804dup XP_005249976.1:n.414-3811_414-3804dup
XM_006715805.1:c.414-3811_414-3804dup XP_006715868.1:n.414-3811_414-3804dup
XM_011515654.1:c.414-3811_414-3804dup XP_011513956.1:n.414-3811_414-3804dup
XM_011515654.2:c.414-3811_414-3804dup XP_011513956.1:n.414-3811_414-3804dup
XM_011515655.1:c.414-3811_414-3804dup XP_011513957.1:n.414-3811_414-3804dup
XM_017012839.1:c.414-3811_414-3804dup XP_016868328.1:n.414-3811_414-3804dup
XM_024447008.1:c.414-3811_414-3804dup XP_024302776.1:n.414-3811_414-3804dup
XR_001744894.2:n.763-3811_763-3804dup