Canonical Allele Identifier: CA2630255034

Gene: POLG

Linked Data

• gnomAD v4: 15-89317388-CGTATCTCCTTTCCATCCCAGTTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317389_89317413del , CM000677.2:g.89317389_89317413del	GRCh38
NC_000015.9:g.89860620_89860644del , CM000677.1:g.89860620_89860644del	GRCh37
NC_000015.8:g.87661624_87661648del	NCBI36
NG_008218.1:g.22383_22407del
NG_011736.1:g.78427_78451del , LRG_500:g.78427_78451del
NG_008218.2:g.22383_22407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3606_3630del	ENSP00000516154.1:p.Asn1202LysfsTer14
ENST00000268124.11:c.3606_3630del MANE Select	ENSP00000268124.5:p.Asn1202LysfsTer14
ENST00000530292.3:c.3306_3330del	ENSP00000432885.2:n.3306_3330del
ENST00000635986.2:c.*676_*700del	ENSP00000490653.2:n.*676_*700del
ENST00000636774.1:c.*2210_*2234del	ENSP00000489799.1:n.*2210_*2234del
ENST00000637238.1:c.2514_2538del	ENSP00000490756.1:n.2514_2538del
ENST00000637264.1:c.2618_2642del
ENST00000666746.1:c.3183_3207del
ENST00000672071.1:n.4808_4832del
ENST00000672695.1:n.1385_1409del
ENST00000672923.2:n.3606_3630del
ENST00000268124.9:c.3606_3630del	ENSP00000268124.5:p.Asn1202LysfsTer14
ENST00000442287.6:c.3606_3630del	ENSP00000399851.2:p.Asn1202LysfsTer14
ENST00000526671.1:n.416_440del
ENST00000530292.2:c.789_813del	ENSP00000432885.1:n.789_813del
ENST00000631044.2:c.*3030_*3054del	ENSP00000486730.1:n.*3030_*3054del
NM_001126131.1:c.3606_3630del	NP_001119603.1:p.Asn1202LysfsTer14
NM_002693.2:c.3606_3630del	NP_002684.1:p.Asn1202LysfsTer14
NM_001126131.2:c.3606_3630del	NP_001119603.1:p.Asn1202LysfsTer14
NM_002693.3:c.3606_3630del MANE Select	NP_002684.1:p.Asn1202LysfsTer14