Canonical Allele Identifier: CA2537992276

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675504_97675505insA , CM000671.2:g.97675504_97675505insA	GRCh38
NC_000009.11:g.100437786_100437787insA , CM000671.1:g.100437786_100437787insA	GRCh37
NC_000009.10:g.99477607_99477608insA	NCBI36
NG_011642.1:g.26905_26906insT , LRG_471:g.26905_26906insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.756_757insT MANE Select	ENSP00000364270.5:p.Glu253Ter
ENST00000375128.4:c.756_757insT	ENSP00000364270.4:p.Glu253Ter
ENST00000462523.5:c.*192_*193insT	ENSP00000433006.1:n.*192_*193insT
ENST00000485042.1:n.268_269insT
NM_000380.3:c.756_757insT , LRG_471t1:c.756_757insT	NP_000371.1:p.Glu253Ter
NR_027302.1:n.1104_1105insT
XM_006717278.1:c.756_757insT	XP_006717341.1:p.Glu253Ter
XM_011518988.1:c.756_757insT	XP_011517290.1:p.Glu253Ter
XR_929839.1:n.1287_1288insT
NM_001354975.1:c.630_631insT	NP_001341904.1:p.Glu211Ter
NR_149091.1:n.601_602insT
NR_149092.1:n.767_768insT
NR_149093.1:n.1293_1294insT
NR_149094.1:n.1187_1188insT
NM_000380.4:c.756_757insT MANE Select	NP_000371.1:p.Glu253Ter
NM_001354975.2:c.630_631insT	NP_001341904.1:p.Glu211Ter
NR_027302.2:n.1035_1036insT
NR_149091.2:n.532_533insT
NR_149092.2:n.698_699insT
NR_149093.2:n.1224_1225insT
NR_149094.2:n.1118_1119insT