Canonical Allele Identifier: CA1139661369
Community Standard Title: NM_024757.5(EHMT1):c.3174_3175delinsCG (p.Leu1059Val)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137813524_137813525delinsCG , CM000671.2:g.137813524_137813525delinsCG GRCh38
NC_000009.11:g.140707976_140707977delinsCG , CM000671.1:g.140707976_140707977delinsCG GRCh37
NC_000009.10:g.139827797_139827798delinsCG NCBI36
NG_011776.1:g.199533_199534delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3174_3175delinsCG MANE Select NP_079033.4:p.Leu1059Val
ENST00000460843.6:c.3174_3175delinsCG MANE Select ENSP00000417980.1:p.Leu1059Val
NM_001354263.1:c.3153_3154delinsCG NP_001341192.1:p.Leu1052Val
NM_001354263.2:c.3153_3154delinsCG NP_001341192.1:p.Leu1052Val
NM_024757.4:c.3174_3175delinsCG NP_079033.4:p.Leu1059Val
ENST00000460843.5:c.3174_3175delinsCG ENSP00000417980.1:p.Leu1059Val
ENST00000462942.3:c.2031_2032delinsCG ENSP00000436107.1:p.Leu678Val
ENST00000483653.1:n.34_35delinsCG
ENST00000488242.2:n.700_701delinsCG
ENST00000637161.1:c.3081_3082delinsCG ENSP00000490328.1:p.Leu1028Val
ENST00000637261.1:c.3214_3215delinsCG ENSP00000490815.1:n.3214_3215delinsCG
ENST00000637891.1:c.1068_1069delinsCG ENSP00000490907.1:p.Leu357Val
XM_005266105.3:c.3165_3166delinsCG XP_005266162.1:p.Leu1056Val
XM_005266105.5:c.3165_3166delinsCG XP_005266162.1:p.Leu1056Val
XM_005266110.1:c.3081_3082delinsCG XP_005266167.1:p.Leu1028Val
XM_006717288.2:c.3156_3157delinsCG XP_006717351.1:p.Leu1053Val
XM_011519021.1:c.3183_3184delinsCG XP_011517323.1:p.Leu1062Val
XM_011519021.3:c.3183_3184delinsCG XP_011517323.1:p.Leu1062Val
XM_011519022.1:c.3180_3181delinsCG XP_011517324.1:p.Leu1061Val
XM_011519022.3:c.3180_3181delinsCG XP_011517324.1:p.Leu1061Val
XM_011519023.1:c.3162_3163delinsCG XP_011517325.1:p.Leu1055Val
XM_011519023.3:c.3162_3163delinsCG XP_011517325.1:p.Leu1055Val
XM_011519024.1:c.3105_3106delinsCG XP_011517326.1:p.Leu1036Val
XM_011519025.1:c.3081_3082delinsCG XP_011517327.1:p.Leu1028Val
XM_011519026.1:c.3039_3040delinsCG XP_011517328.1:p.Leu1014Val
XM_011519029.1:c.1605_1606delinsCG XP_011517331.1:p.Leu536Val
XM_011519029.3:c.1605_1606delinsCG XP_011517331.1:p.Leu536Val
XM_011519030.1:c.957_958delinsCG XP_011517332.1:p.Leu320Val
XM_011519030.3:c.957_958delinsCG XP_011517332.1:p.Leu320Val
XM_011519031.1:c.744_745delinsCG XP_011517333.1:p.Leu249Val
XM_011519032.1:c.744_745delinsCG XP_011517334.1:p.Leu249Val
XM_011519033.1:c.3018_3019delinsCG XP_011517335.1:p.Leu1007Val
XM_017015134.1:c.3159_3160delinsCG XP_016870623.1:p.Leu1054Val
XM_017015136.2:c.3075_3076delinsCG XP_016870625.1:p.Leu1026Val
XM_017015137.1:c.3060_3061delinsCG XP_016870626.1:p.Leu1021Val
XM_017015138.1:c.3060_3061delinsCG XP_016870627.1:p.Leu1021Val
XM_024447674.1:c.3003_3004delinsCG XP_024303442.1:p.Leu1002Val
XM_024447675.1:c.2937_2938delinsCG XP_024303443.1:p.Leu980Val
XM_024447676.1:c.2298_2299delinsCG XP_024303444.1:p.Leu767Val
XM_024447677.1:c.2298_2299delinsCG XP_024303445.1:p.Leu767Val
XM_024447680.1:c.2916_2917delinsCG XP_024303448.1:p.Leu973Val