Canonical Allele Identifier: CA2842283068
Community Standard Title: NM_014800.11(ELMO1):c.1087-27337_1087-27336insC
Gene: ELMO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37160570_37160571insG , CM000669.2:g.37160570_37160571insG GRCh38
NC_000007.13:g.37200175_37200176insG , CM000669.1:g.37200175_37200176insG GRCh37
NC_000007.12:g.37166700_37166701insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014800.11:c.1087-27337_1087-27336insC MANE Select NP_055615.8:n.1087-27337_1087-27336insC
ENST00000310758.9:c.1087-27337_1087-27336insC MANE Select ENSP00000312185.4:n.1087-27337_1087-27336insC
NM_001206480.2:c.1087-27337_1087-27336insC NP_001193409.1:n.1087-27337_1087-27336insC
NM_001206482.1:c.1087-27337_1087-27336insC NP_001193411.1:n.1087-27337_1087-27336insC
NM_001206482.2:c.1087-27337_1087-27336insC NP_001193411.1:n.1087-27337_1087-27336insC
NM_014800.10:c.1087-27337_1087-27336insC NP_055615.8:n.1087-27337_1087-27336insC
ENST00000310758.8:c.1087-27337_1087-27336insC ENSP00000312185.4:n.1087-27337_1087-27336insC
ENST00000420636.5:c.301-27337_301-27336insC ENSP00000396465.1:n.301-27337_301-27336insC
ENST00000433246.5:c.426-27337_426-27336insC
ENST00000442504.5:c.1087-27337_1087-27336insC ENSP00000406952.1:n.1087-27337_1087-27336insC
ENST00000448602.5:c.1087-27337_1087-27336insC ENSP00000394458.1:n.1087-27337_1087-27336insC
ENST00000472359.1:n.124-27337_124-27336insC
ENST00000487336.1:n.427-27337_427-27336insC
XM_005249919.1:c.1087-27337_1087-27336insC XP_005249976.1:n.1087-27337_1087-27336insC
XM_005249919.3:c.1087-27337_1087-27336insC XP_005249976.1:n.1087-27337_1087-27336insC
XM_006715805.1:c.1087-27337_1087-27336insC XP_006715868.1:n.1087-27337_1087-27336insC
XM_011515654.1:c.1087-27337_1087-27336insC XP_011513956.1:n.1087-27337_1087-27336insC
XM_011515654.2:c.1087-27337_1087-27336insC XP_011513956.1:n.1087-27337_1087-27336insC
XM_011515655.1:c.1087-27337_1087-27336insC XP_011513957.1:n.1087-27337_1087-27336insC
XM_017012839.1:c.1087-27337_1087-27336insC XP_016868328.1:n.1087-27337_1087-27336insC
XM_024447008.1:c.1087-27337_1087-27336insC XP_024302776.1:n.1087-27337_1087-27336insC
XR_001744894.2:n.1436-27337_1436-27336insC