Canonical Allele Identifier: CA716880829

Gene: POLG

Linked Data

• dbSNP Id: rs1209944017
• gnomAD v3: 15-89318383-TCTACAACTTTTTAAAAA-T
• gnomAD v4: 15-89318383-TCTACAACTTTTTAAAAA-T
• MyVariant Identifiers: chr15:g.89861615_89861631del (hg19) ; chr15:g.89318384_89318400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318384_89318400del , CM000677.2:g.89318384_89318400del	GRCh38
NC_000015.9:g.89861615_89861631del , CM000677.1:g.89861615_89861631del	GRCh37
NC_000015.8:g.87662619_87662635del	NCBI36
NG_008218.1:g.21396_21412del
NG_011736.1:g.79422_79438del , LRG_500:g.79422_79438del
NG_008218.2:g.21396_21412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+141_3482+157del	ENSP00000516154.1:n.3482+141_3482+157del
ENST00000268124.11:c.3482+141_3482+157del MANE Select	ENSP00000268124.5:n.3482+141_3482+157del
ENST00000530292.3:c.3083+141_3083+157del	ENSP00000432885.2:n.3083+141_3083+157del
ENST00000635986.2:c.*552+141_*552+157del	ENSP00000490653.2:n.*552+141_*552+157del
ENST00000636774.1:c.*2049+141_*2049+157del	ENSP00000489799.1:n.*2049+141_*2049+157del
ENST00000637238.1:c.2291+141_2291+157del	ENSP00000490756.1:n.2291+141_2291+157del
ENST00000637264.1:c.2554+141_2554+157del
ENST00000666746.1:c.3059+141_3059+157del
ENST00000672071.1:n.3821_3837del
ENST00000672695.1:n.800_816del
ENST00000672923.2:n.3482+141_3482+157del
ENST00000268124.9:c.3482+141_3482+157del	ENSP00000268124.5:n.3482+141_3482+157del
ENST00000442287.6:c.3482+141_3482+157del	ENSP00000399851.2:n.3482+141_3482+157del
ENST00000530292.2:c.566+141_566+157del	ENSP00000432885.1:n.566+141_566+157del
ENST00000631044.2:c.*2906+141_*2906+157del	ENSP00000486730.1:n.*2906+141_*2906+157del
NM_001126131.1:c.3482+141_3482+157del	NP_001119603.1:n.3482+141_3482+157del
NM_002693.2:c.3482+141_3482+157del	NP_002684.1:n.3482+141_3482+157del
NM_001126131.2:c.3482+141_3482+157del	NP_001119603.1:n.3482+141_3482+157del
NM_002693.3:c.3482+141_3482+157del MANE Select	NP_002684.1:n.3482+141_3482+157del