Canonical Allele Identifier: CA913190713

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64477934_64477938del , CM000679.2:g.64477934_64477938del	GRCh38
NC_000017.10:g.62474051_62474055del , CM000679.1:g.62474051_62474055del	GRCh37
NC_000017.9:g.59904513_59904517del	NCBI36
NG_013029.1:g.24130_24134del

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.1343_1347del (POLG2) MANE Select	NP_009146.2:p.Leu448Ter
ENST00000539111.7:c.1343_1347del (POLG2) MANE Select	ENSP00000442563.2:p.Leu448Ter
NM_007215.3:c.1343_1347del (POLG2)	NP_009146.2:p.Leu448Ter
ENST00000539111.6:c.1343_1347del (POLG2)	ENSP00000442563.2:p.Leu448Ter
ENST00000581355.1:c.501_505del (POLG2)	ENSP00000462071.1:n.501_505del
ENST00000585104.2:n.1515_1519del (POLG2)
ENST00000671755.1:c.1431_1435del (POLG2)
ENST00000673460.1:c.3461_3465del (POLG2)
XM_011524627.1:c.*29-1433_*29-1429del (MILR1)	XP_011522929.1:n.*29-1433_*29-1429del
XM_024450706.1:c.*28+10289_*28+10293del (MILR1)	XP_024306474.1:n.*28+10289_*28+10293del
XM_024450708.1:c.*28+10289_*28+10293del (MILR1)	XP_024306476.1:n.*28+10289_*28+10293del
XM_024450709.1:c.*29-1433_*29-1429del (MILR1)	XP_024306477.1:n.*29-1433_*29-1429del
XR_002957989.1:n.1207+10289_1207+10293del (MILR1)
XR_002957990.1:n.1207+10289_1207+10293del (MILR1)
XR_243630.1:n.1595_1599del (POLG2)
XR_934357.1:n.3158_3162del (POLG2)