Canonical Allele Identifier: CA716879931

Gene: POLG

Linked Data

• dbSNP Id: rs1190909536
• gnomAD v3: 15-89317519-TTGTAGGCAAACA-T
• gnomAD v4: 15-89317519-TTGTAGGCAAACA-T
• MyVariant Identifiers: chr15:g.89860751_89860762del (hg19) ; chr15:g.89317520_89317531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317522_89317533del , CM000677.2:g.89317522_89317533del	GRCh38
NC_000015.9:g.89860753_89860764del , CM000677.1:g.89860753_89860764del	GRCh37
NC_000015.8:g.87661757_87661768del	NCBI36
NG_008218.1:g.22265_22276del
NG_011736.1:g.78560_78571del , LRG_500:g.78560_78571del
NG_008218.2:g.22265_22276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3488_3499del	ENSP00000516154.1:p.Met1163_Tyr1166del
ENST00000268124.11:c.3488_3499del MANE Select	ENSP00000268124.5:p.Met1163_Tyr1166del
ENST00000530292.3:c.3188_3199del	ENSP00000432885.2:n.3188_3199del
ENST00000635986.2:c.*558_*569del	ENSP00000490653.2:n.*558_*569del
ENST00000636774.1:c.*2092_*2103del	ENSP00000489799.1:n.*2092_*2103del
ENST00000637042.1:n.72-60_72-49del
ENST00000637238.1:c.2396_2407del	ENSP00000490756.1:n.2396_2407del
ENST00000637264.1:c.2555-55_2555-44del
ENST00000666746.1:c.3065_3076del
ENST00000672071.1:n.4690_4701del
ENST00000672695.1:n.1267_1278del
ENST00000672923.2:n.3488_3499del
ENST00000268124.9:c.3488_3499del	ENSP00000268124.5:p.Met1163_Tyr1166del
ENST00000442287.6:c.3488_3499del	ENSP00000399851.2:p.Met1163_Tyr1166del
ENST00000526671.1:n.298_309del
ENST00000530292.2:c.671_682del	ENSP00000432885.1:n.671_682del
ENST00000631044.2:c.*2912_*2923del	ENSP00000486730.1:n.*2912_*2923del
NM_001126131.1:c.3488_3499del	NP_001119603.1:p.Met1163_Tyr1166del
NM_002693.2:c.3488_3499del	NP_002684.1:p.Met1163_Tyr1166del
NM_001126131.2:c.3488_3499del	NP_001119603.1:p.Met1163_Tyr1166del
NM_002693.3:c.3488_3499del MANE Select	NP_002684.1:p.Met1163_Tyr1166del