Canonical Allele Identifier: CA1127936500

Gene: ELP1

Linked Data

• gnomAD v3: 9-108899665-GTT-G
• gnomAD v4: 9-108899665-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899666_108899667del , CM000671.2:g.108899666_108899667del	GRCh38
NC_000009.11:g.111661946_111661947del , CM000671.1:g.111661946_111661947del	GRCh37
NC_000009.10:g.110701767_110701768del	NCBI36
NG_008788.1:g.39662_39663del , LRG_251:g.39662_39663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.2204+155_2204+156del MANE Select	ENSP00000363779.5:n.2204+155_2204+156del
ENST00000495759.6:c.*814+155_*814+156del	ENSP00000433514.2:n.*814+155_*814+156del
ENST00000674535.1:c.2204+155_2204+156del	ENSP00000502142.1:n.2204+155_2204+156del
ENST00000674704.1:n.4011+155_4011+156del
ENST00000674836.1:n.2509+155_2509+156del
ENST00000674890.1:c.2204+155_2204+156del	ENSP00000501870.1:n.2204+155_2204+156del
ENST00000674938.1:c.1862+155_1862+156del	ENSP00000502427.1:n.1862+155_1862+156del
ENST00000674948.1:c.1862+155_1862+156del	ENSP00000501602.1:n.1862+155_1862+156del
ENST00000675052.1:c.2204+155_2204+156del	ENSP00000502664.1:n.2204+155_2204+156del
ENST00000675078.1:c.2204+155_2204+156del	ENSP00000501549.1:n.2204+155_2204+156del
ENST00000675215.1:c.*1428+155_*1428+156del	ENSP00000502558.1:n.*1428+155_*1428+156del
ENST00000675233.1:n.4031+155_4031+156del
ENST00000675321.1:c.2204+155_2204+156del	ENSP00000502751.1:n.2204+155_2204+156del
ENST00000675325.1:n.4000+155_4000+156del
ENST00000675335.1:c.2235+155_2235+156del	ENSP00000502182.1:n.2235+155_2235+156del
ENST00000675400.1:n.3877+155_3877+156del
ENST00000675406.1:c.2204+155_2204+156del	ENSP00000501893.1:n.2204+155_2204+156del
ENST00000675458.1:c.2297+155_2297+156del	ENSP00000501754.1:n.2297+155_2297+156del
ENST00000675507.1:n.4000+155_4000+156del
ENST00000675535.1:c.2204+155_2204+156del	ENSP00000501667.1:n.2204+155_2204+156del
ENST00000675566.1:n.4000+155_4000+156del
ENST00000675602.1:n.5252+155_5252+156del
ENST00000675647.1:n.2509+155_2509+156del
ENST00000675711.1:c.2204+155_2204+156del	ENSP00000502485.1:n.2204+155_2204+156del
ENST00000675727.1:c.2204+155_2204+156del	ENSP00000501722.1:n.2204+155_2204+156del
ENST00000675748.1:n.3838+155_3838+156del
ENST00000675765.1:c.2204+155_2204+156del	ENSP00000502640.1:n.2204+155_2204+156del
ENST00000675825.1:c.2204+155_2204+156del	ENSP00000502632.1:n.2204+155_2204+156del
ENST00000675877.1:n.2509+155_2509+156del
ENST00000675893.1:c.*3273+155_*3273+156del	ENSP00000502001.1:n.*3273+155_*3273+156del
ENST00000675943.1:n.5819+155_5819+156del
ENST00000675979.1:c.*1447+155_*1447+156del	ENSP00000502208.1:n.*1447+155_*1447+156del
ENST00000676044.1:c.2204+155_2204+156del	ENSP00000502378.1:n.2204+155_2204+156del
ENST00000676086.1:n.3989+155_3989+156del
ENST00000676121.1:n.4032+155_4032+156del
ENST00000676237.1:c.2105+155_2105+156del	ENSP00000501828.1:n.2105+155_2105+156del
ENST00000676416.1:c.1862+155_1862+156del	ENSP00000501660.1:n.1862+155_1862+156del
ENST00000676424.1:n.4000+155_4000+156del
ENST00000676429.1:n.6673+155_6673+156del
ENST00000374647.9:c.2204+155_2204+156del	ENSP00000363779.5:n.2204+155_2204+156del
ENST00000537196.1:c.1157+155_1157+156del	ENSP00000439367.1:n.1157+155_1157+156del
NM_003640.3:c.2204+155_2204+156del , LRG_251t1:c.2204+155_2204+156del	NP_003631.2:n.2204+155_2204+156del
XM_005252285.2:c.1862+155_1862+156del	XP_005252342.1:n.1862+155_1862+156del
XM_011519136.1:c.2204+155_2204+156del	XP_011517438.1:n.2204+155_2204+156del
XM_011519137.1:c.1862+155_1862+156del	XP_011517439.1:n.1862+155_1862+156del
XR_929859.1:n.2520+155_2520+156del
NM_001318360.1:c.1862+155_1862+156del	NP_001305289.1:n.1862+155_1862+156del
NM_001330749.1:c.1157+155_1157+156del	NP_001317678.1:n.1157+155_1157+156del
NM_003640.4:c.2204+155_2204+156del	NP_003631.2:n.2204+155_2204+156del
XM_011519136.2:c.2204+155_2204+156del	XP_011517438.1:n.2204+155_2204+156del
XR_929859.3:n.2531+155_2531+156del
NM_003640.5:c.2204+155_2204+156del MANE Select	NP_003631.2:n.2204+155_2204+156del
NM_001318360.2:c.1862+155_1862+156del	NP_001305289.1:n.1862+155_1862+156del
NM_001330749.2:c.1157+155_1157+156del	NP_001317678.1:n.1157+155_1157+156del