Canonical Allele Identifier: CA2630254623

Gene: POLG

Linked Data

• gnomAD v4: 15-89321889-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321892del , CM000677.2:g.89321892del	GRCh38
NC_000015.9:g.89865123del , CM000677.1:g.89865123del	GRCh37
NC_000015.8:g.87666127del	NCBI36
NG_008218.1:g.17906del
NG_008218.2:g.17906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2481-37del	ENSP00000516154.1:n.2481-37del
ENST00000268124.11:c.2481-37del MANE Select	ENSP00000268124.5:n.2481-37del
ENST00000530292.3:c.2082-37del	ENSP00000432885.2:n.2082-37del
ENST00000635986.2:c.2481-37del	ENSP00000490653.2:n.2481-37del
ENST00000636774.1:c.*1048-37del	ENSP00000489799.1:n.*1048-37del
ENST00000637238.1:c.1178-37del	ENSP00000490756.1:n.1178-37del
ENST00000637264.1:c.1553-37del
ENST00000666746.1:c.2058-37del
ENST00000670281.1:c.800+72del	ENSP00000499709.1:n.800+72del
ENST00000672071.1:n.2679-37del
ENST00000672923.2:n.2423-37del
ENST00000268124.9:c.2481-37del	ENSP00000268124.5:n.2481-37del
ENST00000442287.6:c.2481-37del	ENSP00000399851.2:n.2481-37del
ENST00000528881.2:c.196-630del
ENST00000530715.5:c.185+852del	ENSP00000431395.1:n.185+852del
ENST00000532584.5:n.593del
ENST00000631044.2:c.*1905-37del	ENSP00000486730.1:n.*1905-37del
NM_001126131.1:c.2481-37del	NP_001119603.1:n.2481-37del
NM_002693.2:c.2481-37del	NP_002684.1:n.2481-37del
NM_001126131.2:c.2481-37del	NP_001119603.1:n.2481-37del
NM_002693.3:c.2481-37del MANE Select	NP_002684.1:n.2481-37del