Canonical Allele Identifier: CA1871345949

Gene: ELP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.108917581_108917593delinsTGTCCATGAAGGA , CM000671.2:g.108917581_108917593delinsTGTCCATGAAGGA	GRCh38
NC_000009.11:g.111679861_111679873delinsTGTCCATGAAGGA , CM000671.1:g.111679861_111679873delinsTGTCCATGAAGGA	GRCh37
NC_000009.10:g.110719682_110719694delinsTGTCCATGAAGGA	NCBI36
NG_008788.1:g.21736_21748delinsTCCTTCATGGACA , LRG_251:g.21736_21748delinsTCCTTCATGGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374647.10:c.818_830delinsTCCTTCATGGACA MANE Select	ENSP00000363779.5:p.Leu273=
ENST00000495759.6:c.552+5249_552+5261delinsTCCTTCATGGACA	ENSP00000433514.2:n.552+5249_552+5261delinsTCCTTCATGGACA
ENST00000674535.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502142.1:p.Leu273=
ENST00000674704.1:n.2625_2637delinsTCCTTCATGGACA
ENST00000674836.1:n.1123_1135delinsTCCTTCATGGACA
ENST00000674890.1:c.818_830delinsTCCTTCATGGACA	ENSP00000501870.1:p.Leu273=
ENST00000674938.1:c.476_488delinsTCCTTCATGGACA	ENSP00000502427.1:p.Leu159=
ENST00000674948.1:c.476_488delinsTCCTTCATGGACA	ENSP00000501602.1:p.Leu159=
ENST00000675052.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502664.1:p.Leu273=
ENST00000675078.1:c.818_830delinsTCCTTCATGGACA	ENSP00000501549.1:p.Leu273=
ENST00000675215.1:c.*42_*54delinsTCCTTCATGGACA	ENSP00000502558.1:n.*42_*54delinsTCCTTCATGGACA
ENST00000675233.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000675321.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502751.1:p.Leu273=
ENST00000675325.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000675335.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502182.1:p.Leu273=
ENST00000675400.1:n.2491_2503delinsTCCTTCATGGACA
ENST00000675406.1:c.818_830delinsTCCTTCATGGACA	ENSP00000501893.1:p.Leu273=
ENST00000675458.1:c.911_923delinsTCCTTCATGGACA	ENSP00000501754.1:n.911_923delinsTCCTTCATGGACA
ENST00000675507.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000675535.1:c.818_830delinsTCCTTCATGGACA	ENSP00000501667.1:p.Leu273=
ENST00000675566.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000675602.1:n.2617_2629delinsTCCTTCATGGACA
ENST00000675647.1:n.1123_1135delinsTCCTTCATGGACA
ENST00000675711.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502485.1:p.Leu273=
ENST00000675727.1:c.818_830delinsTCCTTCATGGACA	ENSP00000501722.1:p.Leu273=
ENST00000675748.1:n.2452_2464delinsTCCTTCATGGACA
ENST00000675765.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502640.1:p.Leu273=
ENST00000675825.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502632.1:p.Leu273=
ENST00000675877.1:n.1123_1135delinsTCCTTCATGGACA
ENST00000675893.1:c.*1887_*1899delinsTCCTTCATGGACA	ENSP00000502001.1:n.*1887_*1899delinsTCCTTCATGGACA
ENST00000675943.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000675979.1:c.*61_*73delinsTCCTTCATGGACA	ENSP00000502208.1:n.*61_*73delinsTCCTTCATGGACA
ENST00000676044.1:c.818_830delinsTCCTTCATGGACA	ENSP00000502378.1:p.Leu273=
ENST00000676086.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000676121.1:n.2646_2658delinsTCCTTCATGGACA
ENST00000676237.1:c.719_731delinsTCCTTCATGGACA	ENSP00000501828.1:p.Leu240=
ENST00000676416.1:c.476_488delinsTCCTTCATGGACA	ENSP00000501660.1:p.Leu159=
ENST00000676424.1:n.2614_2626delinsTCCTTCATGGACA
ENST00000676429.1:n.5287_5299delinsTCCTTCATGGACA
ENST00000374647.9:c.818_830delinsTCCTTCATGGACA	ENSP00000363779.5:p.Leu273=
ENST00000537196.1:c.-230_-218delinsTCCTTCATGGACA	ENSP00000439367.1:n.-230_-218delinsTCCTTCATGGACA
NM_003640.3:c.818_830delinsTCCTTCATGGACA , LRG_251t1:c.818_830delinsTCCTTCATGGACA	NP_003631.2:p.Leu273=
XM_005252285.2:c.476_488delinsTCCTTCATGGACA	XP_005252342.1:p.Leu159=
XM_011519136.1:c.818_830delinsTCCTTCATGGACA	XP_011517438.1:p.Leu273=
XM_011519137.1:c.476_488delinsTCCTTCATGGACA	XP_011517439.1:p.Leu159=
XR_929859.1:n.1134_1146delinsTCCTTCATGGACA
NM_001318360.1:c.476_488delinsTCCTTCATGGACA	NP_001305289.1:p.Leu159=
NM_001330749.1:c.-230_-218delinsTCCTTCATGGACA	NP_001317678.1:n.-230_-218delinsTCCTTCATGGACA
NM_003640.4:c.818_830delinsTCCTTCATGGACA	NP_003631.2:p.Leu273=
XM_011519136.2:c.818_830delinsTCCTTCATGGACA	XP_011517438.1:p.Leu273=
XR_929859.3:n.1145_1157delinsTCCTTCATGGACA
NM_003640.5:c.818_830delinsTCCTTCATGGACA MANE Select	NP_003631.2:p.Leu273=
NM_001318360.2:c.476_488delinsTCCTTCATGGACA	NP_001305289.1:p.Leu159=
NM_001330749.2:c.-230_-218delinsTCCTTCATGGACA	NP_001317678.1:n.-230_-218delinsTCCTTCATGGACA