Canonical Allele Identifier: CA1866632247

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675475_97675489delinsAGTACAAGTCTTACG , CM000671.2:g.97675475_97675489delinsAGTACAAGTCTTACG	GRCh38
NC_000009.11:g.100437757_100437771delinsAGTACAAGTCTTACG , CM000671.1:g.100437757_100437771delinsAGTACAAGTCTTACG	GRCh37
NC_000009.10:g.99477578_99477592delinsAGTACAAGTCTTACG	NCBI36
NG_011642.1:g.26921_26935delinsCGTAAGACTTGTACT , LRG_471:g.26921_26935delinsCGTAAGACTTGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.772_786delinsCGTAAGACTTGTACT MANE Select	ENSP00000364270.5:p.Arg258=
ENST00000375128.4:c.772_786delinsCGTAAGACTTGTACT	ENSP00000364270.4:p.Arg258=
ENST00000462523.5:c.*208_*222delinsCGTAAGACTTGTACT	ENSP00000433006.1:n.*208_*222delinsCGTAAGACTTGTACT
ENST00000485042.1:n.284_298delinsCGTAAGACTTGTACT
NM_000380.3:c.772_786delinsCGTAAGACTTGTACT , LRG_471t1:c.772_786delinsCGTAAGACTTGTACT	NP_000371.1:p.Arg258=
NR_027302.1:n.1120_1134delinsCGTAAGACTTGTACT
XM_006717278.1:c.772_772+14delinsCGTAAGACTTGTACT
XM_011518988.1:c.772_772+14delinsCGTAAGACTTGTACT
NM_001354975.1:c.646_660delinsCGTAAGACTTGTACT	NP_001341904.1:p.Arg216=
NR_149091.1:n.617_631delinsCGTAAGACTTGTACT
NR_149092.1:n.783_797delinsCGTAAGACTTGTACT
NR_149093.1:n.1309_1323delinsCGTAAGACTTGTACT
NR_149094.1:n.1203_1217delinsCGTAAGACTTGTACT
NM_000380.4:c.772_786delinsCGTAAGACTTGTACT MANE Select	NP_000371.1:p.Arg258=
NM_001354975.2:c.646_660delinsCGTAAGACTTGTACT	NP_001341904.1:p.Arg216=
NR_027302.2:n.1051_1065delinsCGTAAGACTTGTACT
NR_149091.2:n.548_562delinsCGTAAGACTTGTACT
NR_149092.2:n.714_728delinsCGTAAGACTTGTACT
NR_149093.2:n.1240_1254delinsCGTAAGACTTGTACT
NR_149094.2:n.1134_1148delinsCGTAAGACTTGTACT