Canonical Allele Identifier: CA574077189

Gene: ELMO1

Linked Data

• dbSNP Id: rs1210089306
• gnomAD v2: 7-36918025-A-AC
• MyVariant Identifiers: chr7:g.36918025_36918026insC (hg19) ; chr7:g.36878420_36878421insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.36878422dup , CM000669.2:g.36878422dup	GRCh38
NC_000007.13:g.36918027dup , CM000669.1:g.36918027dup	GRCh37
NC_000007.12:g.36884552dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310758.9:c.1715-304dup MANE Select	ENSP00000312185.4:n.1715-304dup
ENST00000310758.8:c.1715-304dup	ENSP00000312185.4:n.1715-304dup
ENST00000396040.6:c.275-304dup	ENSP00000379355.2:n.275-304dup
ENST00000396045.7:c.275-304dup	ENSP00000379360.3:n.275-304dup
ENST00000442504.5:c.1715-304dup	ENSP00000406952.1:n.1715-304dup
ENST00000448602.5:c.1715-304dup	ENSP00000394458.1:n.1715-304dup
ENST00000464262.6:n.359-304dup
ENST00000487843.1:n.236+16588dup
NM_001039459.2:c.275-304dup	NP_001034548.1:n.275-304dup
NM_001206480.2:c.1715-304dup	NP_001193409.1:n.1715-304dup
NM_001206482.1:c.1715-304dup	NP_001193411.1:n.1715-304dup
NM_014800.10:c.1715-304dup	NP_055615.8:n.1715-304dup
NM_130442.3:c.275-304dup	NP_569709.1:n.275-304dup
NR_038120.1:n.509-304dup
XM_005249919.1:c.1715-304dup	XP_005249976.1:n.1715-304dup
XM_006715805.1:c.1715-304dup	XP_006715868.1:n.1715-304dup
XM_011515654.1:c.1715-304dup	XP_011513956.1:n.1715-304dup
XM_011515655.1:c.1602-304dup	XP_011513957.1:n.1602-304dup
XM_005249919.3:c.1715-304dup	XP_005249976.1:n.1715-304dup
XM_011515654.2:c.1715-304dup	XP_011513956.1:n.1715-304dup
XM_017012839.1:c.1715-304dup	XP_016868328.1:n.1715-304dup
XM_024447008.1:c.1715-304dup	XP_024302776.1:n.1715-304dup
XR_001744894.2:n.1951-304dup
NM_001039459.3:c.275-304dup	NP_001034548.1:n.275-304dup
NM_001206482.2:c.1715-304dup	NP_001193411.1:n.1715-304dup
NM_014800.11:c.1715-304dup MANE Select	NP_055615.8:n.1715-304dup
NM_130442.4:c.275-304dup	NP_569709.1:n.275-304dup
NR_038120.2:n.376-304dup