Canonical Allele Identifier: CA288074854

Gene: ELAC2

Linked Data

• dbSNP Id: rs1045139477
• gnomAD v4: 17-12992761-GGTGC-G
• MyVariant Identifiers: chr17:g.12896079_12896082del (hg19) ; chr17:g.12992762_12992765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992769_12992772del , CM000679.2:g.12992769_12992772del	GRCh38
NC_000017.10:g.12896086_12896089del , CM000679.1:g.12896086_12896089del	GRCh37
NC_000017.9:g.12836811_12836814del	NCBI36
NG_015808.1:g.30300_30303del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.*53_*56del MANE Select	ENSP00000337445.4:n.*53_*56del
ENST00000338034.8:c.*53_*56del	ENSP00000337445.4:n.*53_*56del
ENST00000395962.6:c.*53_*56del	ENSP00000379291.1:n.*53_*56del
ENST00000426905.7:c.*53_*56del	ENSP00000405223.3:n.*53_*56del
ENST00000465825.5:n.2421_2424del
ENST00000480891.5:n.2363_2366del
ENST00000484122.5:n.3364_3367del
ENST00000487229.6:n.2080_2083del
ENST00000584650.5:c.1933_1936del
NM_001165962.1:c.*53_*56del	NP_001159434.1:n.*53_*56del
NM_018127.6:c.*53_*56del	NP_060597.4:n.*53_*56del
NM_173717.1:c.*53_*56del	NP_776065.1:n.*53_*56del
XM_024450850.1:c.*53_*56del	XP_024306618.1:n.*53_*56del
XM_024450851.1:c.*53_*56del	XP_024306619.1:n.*53_*56del
XM_024450852.1:c.*53_*56del	XP_024306620.1:n.*53_*56del
XM_024450853.1:c.*53_*56del	XP_024306621.1:n.*53_*56del
XM_024450854.1:c.*53_*56del	XP_024306622.1:n.*53_*56del
XM_024450855.1:c.*53_*56del	XP_024306623.1:n.*53_*56del
XM_024450856.1:c.*53_*56del	XP_024306624.1:n.*53_*56del
XM_024450857.1:c.*53_*56del	XP_024306625.1:n.*53_*56del
XM_024450858.1:c.*53_*56del	XP_024306626.1:n.*53_*56del
XM_024450859.1:c.*53_*56del	XP_024306627.1:n.*53_*56del
XM_024450860.1:c.*53_*56del	XP_024306628.1:n.*53_*56del
XM_024450861.1:c.*53_*56del	XP_024306629.1:n.*53_*56del
XM_024450862.1:c.*53_*56del	XP_024306630.1:n.*53_*56del
NM_018127.7:c.*53_*56del MANE Select	NP_060597.4:n.*53_*56del
NM_001165962.2:c.*53_*56del	NP_001159434.1:n.*53_*56del
NM_173717.2:c.*53_*56del	NP_776065.1:n.*53_*56del