Canonical Allele Identifier: CA2691111707

Gene: ELP1

Linked Data

• gnomAD v4: 9-108879708-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108879708_108879709insC , CM000671.2:g.108879708_108879709insC	GRCh38
NC_000009.11:g.111641988_111641989insC , CM000671.1:g.111641988_111641989insC	GRCh37
NC_000009.10:g.110681809_110681810insC	NCBI36
NG_008788.1:g.59620_59621insG , LRG_251:g.59620_59621insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.3461-152_3461-151insG MANE Select	ENSP00000363779.5:n.3461-152_3461-151insG
ENST00000495759.6:c.*2071-152_*2071-151insG	ENSP00000433514.2:n.*2071-152_*2071-151insG
ENST00000674535.1:c.3461-152_3461-151insG	ENSP00000502142.1:n.3461-152_3461-151insG
ENST00000674704.1:n.6546-152_6546-151insG
ENST00000674740.1:n.344-152_344-151insG
ENST00000674836.1:n.4074-152_4074-151insG
ENST00000674890.1:c.*696-152_*696-151insG	ENSP00000501870.1:n.*696-152_*696-151insG
ENST00000674938.1:c.3119-152_3119-151insG	ENSP00000502427.1:n.3119-152_3119-151insG
ENST00000674948.1:c.3119-152_3119-151insG	ENSP00000501602.1:n.3119-152_3119-151insG
ENST00000675052.1:c.3461-152_3461-151insG	ENSP00000502664.1:n.3461-152_3461-151insG
ENST00000675062.1:n.507-152_507-151insG
ENST00000675078.1:c.3461-152_3461-151insG	ENSP00000501549.1:n.3461-152_3461-151insG
ENST00000675215.1:c.*2685-152_*2685-151insG	ENSP00000502558.1:n.*2685-152_*2685-151insG
ENST00000675233.1:n.5288-152_5288-151insG
ENST00000675321.1:c.3460+343_3460+344insG	ENSP00000502751.1:n.3460+343_3460+344insG
ENST00000675325.1:n.5418-152_5418-151insG
ENST00000675335.1:c.3492-152_3492-151insG	ENSP00000502182.1:n.3492-152_3492-151insG
ENST00000675400.1:n.5313-152_5313-151insG
ENST00000675406.1:c.3461-152_3461-151insG	ENSP00000501893.1:n.3461-152_3461-151insG
ENST00000675458.1:c.3554-152_3554-151insG	ENSP00000501754.1:n.3554-152_3554-151insG
ENST00000675507.1:n.5257-152_5257-151insG
ENST00000675535.1:c.*1088-152_*1088-151insG	ENSP00000501667.1:n.*1088-152_*1088-151insG
ENST00000675566.1:n.5319-152_5319-151insG
ENST00000675580.1:n.614-152_614-151insG
ENST00000675602.1:n.6509-152_6509-151insG
ENST00000675647.1:n.4625-152_4625-151insG
ENST00000675711.1:c.3578-152_3578-151insG	ENSP00000502485.1:n.3578-152_3578-151insG
ENST00000675727.1:c.3461-152_3461-151insG	ENSP00000501722.1:n.3461-152_3461-151insG
ENST00000675748.1:n.5095-152_5095-151insG
ENST00000675765.1:c.*844-152_*844-151insG	ENSP00000502640.1:n.*844-152_*844-151insG
ENST00000675825.1:c.3503-152_3503-151insG	ENSP00000502632.1:n.3503-152_3503-151insG
ENST00000675877.1:n.5305-152_5305-151insG
ENST00000675893.1:c.*4530-152_*4530-151insG	ENSP00000502001.1:n.*4530-152_*4530-151insG
ENST00000675943.1:n.7076-152_7076-151insG
ENST00000675979.1:c.*2704-152_*2704-151insG	ENSP00000502208.1:n.*2704-152_*2704-151insG
ENST00000676044.1:c.*1121-152_*1121-151insG	ENSP00000502378.1:n.*1121-152_*1121-151insG
ENST00000676086.1:n.5246-152_5246-151insG
ENST00000676121.1:n.5289-152_5289-151insG
ENST00000676162.1:n.190-152_190-151insG
ENST00000676237.1:c.3404-152_3404-151insG	ENSP00000501828.1:n.3404-152_3404-151insG
ENST00000676416.1:c.3161-152_3161-151insG	ENSP00000501660.1:n.3161-152_3161-151insG
ENST00000676424.1:n.5299-152_5299-151insG
ENST00000676429.1:n.7930-152_7930-151insG
ENST00000374647.9:c.3461-152_3461-151insG	ENSP00000363779.5:n.3461-152_3461-151insG
ENST00000467959.1:n.341-152_341-151insG
ENST00000495759.5:c.601-152_601-151insG
ENST00000537196.1:c.2414-152_2414-151insG	ENSP00000439367.1:n.2414-152_2414-151insG
NM_003640.3:c.3461-152_3461-151insG , LRG_251t1:c.3461-152_3461-151insG	NP_003631.2:n.3461-152_3461-151insG
XM_005252285.2:c.3119-152_3119-151insG	XP_005252342.1:n.3119-152_3119-151insG
XM_011519136.1:c.3503-152_3503-151insG	XP_011517438.1:n.3503-152_3503-151insG
XM_011519137.1:c.3161-152_3161-151insG	XP_011517439.1:n.3161-152_3161-151insG
NM_001318360.1:c.3119-152_3119-151insG	NP_001305289.1:n.3119-152_3119-151insG
NM_001330749.1:c.2414-152_2414-151insG	NP_001317678.1:n.2414-152_2414-151insG
NM_003640.4:c.3461-152_3461-151insG	NP_003631.2:n.3461-152_3461-151insG
XM_011519136.2:c.3503-152_3503-151insG	XP_011517438.1:n.3503-152_3503-151insG
XR_929859.3:n.3850-152_3850-151insG
NM_003640.5:c.3461-152_3461-151insG MANE Select	NP_003631.2:n.3461-152_3461-151insG
NM_001318360.2:c.3119-152_3119-151insG	NP_001305289.1:n.3119-152_3119-151insG
NM_001330749.2:c.2414-152_2414-151insG	NP_001317678.1:n.2414-152_2414-151insG