Canonical Allele Identifier: CA624926720

Gene: ELAC2

Linked Data

• dbSNP Id: rs1481235590
• gnomAD v2: 17-12896167-CCT-C
• gnomAD v3: 17-12992850-CCT-C
• gnomAD v4: 17-12992850-CCT-C
• MyVariant Identifiers: chr17:g.12896168_12896169del (hg19) ; chr17:g.12992851_12992852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992853_12992854del , CM000679.2:g.12992853_12992854del	GRCh38
NC_000017.10:g.12896170_12896171del , CM000679.1:g.12896170_12896171del	GRCh37
NC_000017.9:g.12836895_12836896del	NCBI36
NG_015808.1:g.30213_30214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2447_2448del MANE Select	ENSP00000337445.4:p.Glu816GlyfsTer?
ENST00000338034.8:c.2447_2448del	ENSP00000337445.4:p.Glu816GlyfsTer?
ENST00000395962.6:c.2390_2391del	ENSP00000379291.1:p.Glu797GlyfsTer?
ENST00000426905.7:c.2327_2328del	ENSP00000405223.3:p.Glu776GlyfsTer?
ENST00000465825.5:n.2334_2335del
ENST00000480891.5:n.2276_2277del
ENST00000484122.5:n.3277_3278del
ENST00000487229.6:n.1993_1994del
ENST00000584650.5:c.1846_1847del
NM_001165962.1:c.2327_2328del	NP_001159434.1:p.Glu776GlyfsTer?
NM_018127.6:c.2447_2448del	NP_060597.4:p.Glu816GlyfsTer?
NM_173717.1:c.2444_2445del	NP_776065.1:p.Glu815GlyfsTer?
XM_024450850.1:c.2606_2607del	XP_024306618.1:p.Glu869GlyfsTer?
XM_024450851.1:c.2528_2529del	XP_024306619.1:p.Glu843GlyfsTer?
XM_024450852.1:c.2525_2526del	XP_024306620.1:p.Glu842GlyfsTer?
XM_024450853.1:c.2522_2523del	XP_024306621.1:p.Glu841GlyfsTer?
XM_024450854.1:c.2486_2487del	XP_024306622.1:p.Glu829GlyfsTer?
XM_024450855.1:c.2405_2406del	XP_024306623.1:p.Glu802GlyfsTer?
XM_024450856.1:c.2324_2325del	XP_024306624.1:p.Glu775GlyfsTer?
XM_024450857.1:c.2324_2325del	XP_024306625.1:p.Glu775GlyfsTer?
XM_024450858.1:c.2243_2244del	XP_024306626.1:p.Glu748GlyfsTer?
XM_024450859.1:c.2240_2241del	XP_024306627.1:p.Glu747GlyfsTer?
XM_024450860.1:c.2165_2166del	XP_024306628.1:p.Glu722GlyfsTer?
XM_024450861.1:c.2165_2166del	XP_024306629.1:p.Glu722GlyfsTer?
XM_024450862.1:c.2162_2163del	XP_024306630.1:p.Glu721GlyfsTer?
NM_018127.7:c.2447_2448del MANE Select	NP_060597.4:p.Glu816GlyfsTer?
NM_001165962.2:c.2327_2328del	NP_001159434.1:p.Glu776GlyfsTer?
NM_173717.2:c.2444_2445del	NP_776065.1:p.Glu815GlyfsTer?