Canonical Allele Identifier: CA2785233282

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675371_97675376del , CM000671.2:g.97675371_97675376del	GRCh38
NC_000009.11:g.100437653_100437658del , CM000671.1:g.100437653_100437658del	GRCh37
NC_000009.10:g.99477474_99477479del	NCBI36
NG_011642.1:g.27036_27041del , LRG_471:g.27036_27041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*65_*70del MANE Select	ENSP00000364270.5:n.*65_*70del
ENST00000375128.4:c.*65_*70del	ENSP00000364270.4:n.*65_*70del
ENST00000462523.5:c.*323_*328del	ENSP00000433006.1:n.*323_*328del
ENST00000485042.1:n.399_404del
NM_000380.3:c.*65_*70del , LRG_471t1:c.*65_*70del	NP_000371.1:n.*65_*70del
NR_027302.1:n.1235_1240del
XM_006717278.1:c.772+115_772+120del	XP_006717341.1:n.772+115_772+120del
XM_011518988.1:c.772+115_772+120del	XP_011517290.1:n.772+115_772+120del
NM_001354975.1:c.*65_*70del	NP_001341904.1:n.*65_*70del
NR_149091.1:n.732_737del
NR_149092.1:n.898_903del
NR_149093.1:n.1424_1429del
NR_149094.1:n.1318_1323del
NM_000380.4:c.*65_*70del MANE Select	NP_000371.1:n.*65_*70del
NM_001354975.2:c.*65_*70del	NP_001341904.1:n.*65_*70del
NR_027302.2:n.1166_1171del
NR_149091.2:n.663_668del
NR_149092.2:n.829_834del
NR_149093.2:n.1355_1360del
NR_149094.2:n.1249_1254del