Canonical Allele Identifier: CA2630251674

Gene: POLG

Linked Data

• gnomAD v4: 15-89318580-CGGTAGCGGTCCTCCTCCCGCACCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318588_89318611del , CM000677.2:g.89318588_89318611del	GRCh38
NC_000015.9:g.89861819_89861842del , CM000677.1:g.89861819_89861842del	GRCh37
NC_000015.8:g.87662823_87662846del	NCBI36
NG_008218.1:g.21192_21215del
NG_011736.1:g.79626_79649del , LRG_500:g.79626_79649del
NG_008218.2:g.21192_21215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3419_3442del	ENSP00000516154.1:p.Leu1140_Tyr1147del
ENST00000268124.11:c.3419_3442del MANE Select	ENSP00000268124.5:p.Leu1140_Tyr1147del
ENST00000530292.3:c.3020_3043del	ENSP00000432885.2:p.Leu1007_Tyr1014del
ENST00000635986.2:c.*489_*512del	ENSP00000490653.2:n.*489_*512del
ENST00000636774.1:c.*1986_*2009del	ENSP00000489799.1:n.*1986_*2009del
ENST00000637238.1:c.2228_2251del	ENSP00000490756.1:n.2228_2251del
ENST00000637264.1:c.2491_2514del
ENST00000666746.1:c.2996_3019del
ENST00000672071.1:n.3617_3640del
ENST00000672695.1:n.596_619del
ENST00000672923.2:n.3419_3442del
ENST00000268124.9:c.3419_3442del	ENSP00000268124.5:p.Leu1140_Tyr1147del
ENST00000442287.6:c.3419_3442del	ENSP00000399851.2:p.Leu1140_Tyr1147del
ENST00000530292.2:c.503_526del	ENSP00000432885.1:p.Leu168_Tyr175del
ENST00000631044.2:c.*2843_*2866del	ENSP00000486730.1:n.*2843_*2866del
NM_001126131.1:c.3419_3442del	NP_001119603.1:p.Leu1140_Tyr1147del
NM_002693.2:c.3419_3442del	NP_002684.1:p.Leu1140_Tyr1147del
NM_001126131.2:c.3419_3442del	NP_001119603.1:p.Leu1140_Tyr1147del
NM_002693.3:c.3419_3442del MANE Select	NP_002684.1:p.Leu1140_Tyr1147del