Canonical Allele Identifier: CA2579411571

Gene: ELP1

Linked Data

• gnomAD v4: 9-108899771-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108899776_108899777del , CM000671.2:g.108899776_108899777del	GRCh38
NC_000009.11:g.111662056_111662057del , CM000671.1:g.111662056_111662057del	GRCh37
NC_000009.10:g.110701877_110701878del	NCBI36
NG_008788.1:g.39556_39557del , LRG_251:g.39556_39557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374647.10:c.2204+49_2204+50del MANE Select	ENSP00000363779.5:n.2204+49_2204+50del
ENST00000495759.6:c.*814+49_*814+50del	ENSP00000433514.2:n.*814+49_*814+50del
ENST00000674535.1:c.2204+49_2204+50del	ENSP00000502142.1:n.2204+49_2204+50del
ENST00000674704.1:n.4011+49_4011+50del
ENST00000674836.1:n.2509+49_2509+50del
ENST00000674890.1:c.2204+49_2204+50del	ENSP00000501870.1:n.2204+49_2204+50del
ENST00000674938.1:c.1862+49_1862+50del	ENSP00000502427.1:n.1862+49_1862+50del
ENST00000674948.1:c.1862+49_1862+50del	ENSP00000501602.1:n.1862+49_1862+50del
ENST00000675052.1:c.2204+49_2204+50del	ENSP00000502664.1:n.2204+49_2204+50del
ENST00000675078.1:c.2204+49_2204+50del	ENSP00000501549.1:n.2204+49_2204+50del
ENST00000675215.1:c.*1428+49_*1428+50del	ENSP00000502558.1:n.*1428+49_*1428+50del
ENST00000675233.1:n.4031+49_4031+50del
ENST00000675321.1:c.2204+49_2204+50del	ENSP00000502751.1:n.2204+49_2204+50del
ENST00000675325.1:n.4000+49_4000+50del
ENST00000675335.1:c.2235+49_2235+50del	ENSP00000502182.1:n.2235+49_2235+50del
ENST00000675400.1:n.3877+49_3877+50del
ENST00000675406.1:c.2204+49_2204+50del	ENSP00000501893.1:n.2204+49_2204+50del
ENST00000675458.1:c.2297+49_2297+50del	ENSP00000501754.1:n.2297+49_2297+50del
ENST00000675507.1:n.4000+49_4000+50del
ENST00000675535.1:c.2204+49_2204+50del	ENSP00000501667.1:n.2204+49_2204+50del
ENST00000675566.1:n.4000+49_4000+50del
ENST00000675602.1:n.5252+49_5252+50del
ENST00000675647.1:n.2509+49_2509+50del
ENST00000675711.1:c.2204+49_2204+50del	ENSP00000502485.1:n.2204+49_2204+50del
ENST00000675727.1:c.2204+49_2204+50del	ENSP00000501722.1:n.2204+49_2204+50del
ENST00000675748.1:n.3838+49_3838+50del
ENST00000675765.1:c.2204+49_2204+50del	ENSP00000502640.1:n.2204+49_2204+50del
ENST00000675825.1:c.2204+49_2204+50del	ENSP00000502632.1:n.2204+49_2204+50del
ENST00000675877.1:n.2509+49_2509+50del
ENST00000675893.1:c.*3273+49_*3273+50del	ENSP00000502001.1:n.*3273+49_*3273+50del
ENST00000675943.1:n.5819+49_5819+50del
ENST00000675979.1:c.*1447+49_*1447+50del	ENSP00000502208.1:n.*1447+49_*1447+50del
ENST00000676044.1:c.2204+49_2204+50del	ENSP00000502378.1:n.2204+49_2204+50del
ENST00000676086.1:n.3989+49_3989+50del
ENST00000676121.1:n.4032+49_4032+50del
ENST00000676237.1:c.2105+49_2105+50del	ENSP00000501828.1:n.2105+49_2105+50del
ENST00000676416.1:c.1862+49_1862+50del	ENSP00000501660.1:n.1862+49_1862+50del
ENST00000676424.1:n.4000+49_4000+50del
ENST00000676429.1:n.6673+49_6673+50del
ENST00000374647.9:c.2204+49_2204+50del	ENSP00000363779.5:n.2204+49_2204+50del
ENST00000537196.1:c.1157+49_1157+50del	ENSP00000439367.1:n.1157+49_1157+50del
NM_003640.3:c.2204+49_2204+50del , LRG_251t1:c.2204+49_2204+50del	NP_003631.2:n.2204+49_2204+50del
XM_005252285.2:c.1862+49_1862+50del	XP_005252342.1:n.1862+49_1862+50del
XM_011519136.1:c.2204+49_2204+50del	XP_011517438.1:n.2204+49_2204+50del
XM_011519137.1:c.1862+49_1862+50del	XP_011517439.1:n.1862+49_1862+50del
XR_929859.1:n.2520+49_2520+50del
NM_001318360.1:c.1862+49_1862+50del	NP_001305289.1:n.1862+49_1862+50del
NM_001330749.1:c.1157+49_1157+50del	NP_001317678.1:n.1157+49_1157+50del
NM_003640.4:c.2204+49_2204+50del	NP_003631.2:n.2204+49_2204+50del
XM_011519136.2:c.2204+49_2204+50del	XP_011517438.1:n.2204+49_2204+50del
XR_929859.3:n.2531+49_2531+50del
NM_003640.5:c.2204+49_2204+50del MANE Select	NP_003631.2:n.2204+49_2204+50del
NM_001318360.2:c.1862+49_1862+50del	NP_001305289.1:n.1862+49_1862+50del
NM_001330749.2:c.1157+49_1157+50del	NP_001317678.1:n.1157+49_1157+50del