Canonical Allele Identifier: CA16620332
Gene: ELAC2 HGNC NCBI

Linked Data

dbSNP Id: rs1064796732

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.13005077_13005079del , CM000679.2:g.13005077_13005079del GRCh38
NC_000017.10:g.12908394_12908396del , CM000679.1:g.12908394_12908396del GRCh37
NC_000017.9:g.12849119_12849121del NCBI36
NG_015808.1:g.17990_17992del

Transcript Alleles

HGVS Amino-acid change
ENST00000338034.9:c.897_899del MANE Select ENSP00000337445.4:p.Pro300del
ENST00000338034.8:c.897_899del ENSP00000337445.4:p.Pro300del
ENST00000395962.6:c.840_842del ENSP00000379291.1:p.Pro281del
ENST00000426905.7:c.777_779del ENSP00000405223.3:p.Pro260del
ENST00000446899.5:c.235_237del
ENST00000480891.5:n.726_728del
ENST00000484122.5:n.1159_1161del
ENST00000584650.5:c.371_373del
ENST00000609101.5:c.615_617del ENSP00000477044.1:p.Pro206del
ENST00000609345.1:n.694_696del
NM_001165962.1:c.777_779del NP_001159434.1:p.Pro260del
NM_018127.6:c.897_899del NP_060597.4:p.Pro300del
NM_173717.1:c.897_899del NP_776065.1:p.Pro300del
XM_024450850.1:c.897_899del XP_024306618.1:p.Pro300del
XM_024450851.1:c.897_899del XP_024306619.1:p.Pro300del
XM_024450852.1:c.897_899del XP_024306620.1:p.Pro300del
XM_024450853.1:c.897_899del XP_024306621.1:p.Pro300del
XM_024450854.1:c.777_779del XP_024306622.1:p.Pro260del
XM_024450855.1:c.777_779del XP_024306623.1:p.Pro260del
XM_024450856.1:c.615_617del XP_024306624.1:p.Pro206del
XM_024450857.1:c.615_617del XP_024306625.1:p.Pro206del
XM_024450858.1:c.615_617del XP_024306626.1:p.Pro206del
XM_024450859.1:c.615_617del XP_024306627.1:p.Pro206del
XM_024450860.1:c.615_617del XP_024306628.1:p.Pro206del
XM_024450861.1:c.615_617del XP_024306629.1:p.Pro206del
XM_024450862.1:c.615_617del XP_024306630.1:p.Pro206del
NM_018127.7:c.897_899del MANE Select NP_060597.4:p.Pro300del
NM_001165962.2:c.777_779del NP_001159434.1:p.Pro260del
NM_173717.2:c.897_899del NP_776065.1:p.Pro300del