Canonical Allele Identifier: CA619511618

Gene: POLG

Linked Data

• dbSNP Id: rs3176229
• gnomAD v2: 15-89861578-CTTT-C
• gnomAD v3: 15-89318347-CTTT-C
• gnomAD v4: 15-89318347-CTTT-C
• MyVariant Identifiers: chr15:g.89861579_89861581del (hg19) ; chr15:g.89318348_89318350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318352_89318354del , CM000677.2:g.89318352_89318354del	GRCh38
NC_000015.9:g.89861583_89861585del , CM000677.1:g.89861583_89861585del	GRCh37
NC_000015.8:g.87662587_87662589del	NCBI36
NG_008218.1:g.21446_21448del
NG_011736.1:g.79390_79392del , LRG_500:g.79390_79392del
NG_008218.2:g.21446_21448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+191_3482+193del	ENSP00000516154.1:n.3482+191_3482+193del
ENST00000268124.11:c.3482+191_3482+193del MANE Select	ENSP00000268124.5:n.3482+191_3482+193del
ENST00000530292.3:c.3083+191_3083+193del	ENSP00000432885.2:n.3083+191_3083+193del
ENST00000635986.2:c.*552+191_*552+193del	ENSP00000490653.2:n.*552+191_*552+193del
ENST00000636774.1:c.*2049+191_*2049+193del	ENSP00000489799.1:n.*2049+191_*2049+193del
ENST00000637238.1:c.2291+191_2291+193del	ENSP00000490756.1:n.2291+191_2291+193del
ENST00000637264.1:c.2554+191_2554+193del
ENST00000666746.1:c.3059+191_3059+193del
ENST00000672071.1:n.3871_3873del
ENST00000672695.1:n.850_852del
ENST00000672923.2:n.3482+191_3482+193del
ENST00000268124.9:c.3482+191_3482+193del	ENSP00000268124.5:n.3482+191_3482+193del
ENST00000442287.6:c.3482+191_3482+193del	ENSP00000399851.2:n.3482+191_3482+193del
ENST00000530292.2:c.566+191_566+193del	ENSP00000432885.1:n.566+191_566+193del
ENST00000631044.2:c.*2906+191_*2906+193del	ENSP00000486730.1:n.*2906+191_*2906+193del
NM_001126131.1:c.3482+191_3482+193del	NP_001119603.1:n.3482+191_3482+193del
NM_002693.2:c.3482+191_3482+193del	NP_002684.1:n.3482+191_3482+193del
NM_001126131.2:c.3482+191_3482+193del	NP_001119603.1:n.3482+191_3482+193del
NM_002693.3:c.3482+191_3482+193del MANE Select	NP_002684.1:n.3482+191_3482+193del