Canonical Allele Identifier: CA619511620

Gene: POLG

Linked Data

• dbSNP Id: rs1567184855
• gnomAD v2: 15-89861586-ACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAAT-A
• gnomAD v3: 15-89318355-ACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAAT-A
• gnomAD v4: 15-89318355-ACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAAT-A
• MyVariant Identifiers: chr15:g.89861587_89861643del (hg19) ; chr15:g.89318356_89318412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318356_89318412del , CM000677.2:g.89318356_89318412del	GRCh38
NC_000015.9:g.89861587_89861643del , CM000677.1:g.89861587_89861643del	GRCh37
NC_000015.8:g.87662591_87662647del	NCBI36
NG_008218.1:g.21384_21440del
NG_011736.1:g.79394_79450del , LRG_500:g.79394_79450del
NG_008218.2:g.21384_21440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3482+129_3482+185del	ENSP00000516154.1:n.3482+129_3482+185del
ENST00000268124.11:c.3482+129_3482+185del MANE Select	ENSP00000268124.5:n.3482+129_3482+185del
ENST00000530292.3:c.3083+129_3083+185del	ENSP00000432885.2:n.3083+129_3083+185del
ENST00000635986.2:c.*552+129_*552+185del	ENSP00000490653.2:n.*552+129_*552+185del
ENST00000636774.1:c.*2049+129_*2049+185del	ENSP00000489799.1:n.*2049+129_*2049+185del
ENST00000637238.1:c.2291+129_2291+185del	ENSP00000490756.1:n.2291+129_2291+185del
ENST00000637264.1:c.2554+129_2554+185del
ENST00000666746.1:c.3059+129_3059+185del
ENST00000672071.1:n.3809_3865del
ENST00000672695.1:n.788_844del
ENST00000672923.2:n.3482+129_3482+185del
ENST00000268124.9:c.3482+129_3482+185del	ENSP00000268124.5:n.3482+129_3482+185del
ENST00000442287.6:c.3482+129_3482+185del	ENSP00000399851.2:n.3482+129_3482+185del
ENST00000530292.2:c.566+129_566+185del	ENSP00000432885.1:n.566+129_566+185del
ENST00000631044.2:c.*2906+129_*2906+185del	ENSP00000486730.1:n.*2906+129_*2906+185del
NM_001126131.1:c.3482+129_3482+185del	NP_001119603.1:n.3482+129_3482+185del
NM_002693.2:c.3482+129_3482+185del	NP_002684.1:n.3482+129_3482+185del
NM_001126131.2:c.3482+129_3482+185del	NP_001119603.1:n.3482+129_3482+185del
NM_002693.3:c.3482+129_3482+185del MANE Select	NP_002684.1:n.3482+129_3482+185del