Canonical Allele Identifier: CA1700330466
Gene: ELMO1 HGNC NCBI

Linked Data

dbSNP Id: rs1804151042

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.36878476del , CM000669.2:g.36878476del GRCh38
NC_000007.13:g.36918081del , CM000669.1:g.36918081del GRCh37
NC_000007.12:g.36884606del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310758.9:c.1715-359del MANE Select ENSP00000312185.4:n.1715-359del
ENST00000310758.8:c.1715-359del ENSP00000312185.4:n.1715-359del
ENST00000396040.6:c.275-359del ENSP00000379355.2:n.275-359del
ENST00000396045.7:c.275-359del ENSP00000379360.3:n.275-359del
ENST00000442504.5:c.1715-359del ENSP00000406952.1:n.1715-359del
ENST00000448602.5:c.1715-359del ENSP00000394458.1:n.1715-359del
ENST00000464262.6:n.359-359del
ENST00000487843.1:n.236+16533del
NM_001039459.2:c.275-359del NP_001034548.1:n.275-359del
NM_001206480.2:c.1715-359del NP_001193409.1:n.1715-359del
NM_001206482.1:c.1715-359del NP_001193411.1:n.1715-359del
NM_014800.10:c.1715-359del NP_055615.8:n.1715-359del
NM_130442.3:c.275-359del NP_569709.1:n.275-359del
NR_038120.1:n.509-359del
XM_005249919.1:c.1715-359del XP_005249976.1:n.1715-359del
XM_006715805.1:c.1715-359del XP_006715868.1:n.1715-359del
XM_011515654.1:c.1715-359del XP_011513956.1:n.1715-359del
XM_011515655.1:c.1602-359del XP_011513957.1:n.1602-359del
XM_005249919.3:c.1715-359del XP_005249976.1:n.1715-359del
XM_011515654.2:c.1715-359del XP_011513956.1:n.1715-359del
XM_017012839.1:c.1715-359del XP_016868328.1:n.1715-359del
XM_024447008.1:c.1715-359del XP_024302776.1:n.1715-359del
XR_001744894.2:n.1951-359del
NM_001039459.3:c.275-359del NP_001034548.1:n.275-359del
NM_001206482.2:c.1715-359del NP_001193411.1:n.1715-359del
NM_014800.11:c.1715-359del MANE Select NP_055615.8:n.1715-359del
NM_130442.4:c.275-359del NP_569709.1:n.275-359del
NR_038120.2:n.376-359del