Canonical Allele Identifier: CA1866632300

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675565_97675568delinsGCTT , CM000671.2:g.97675565_97675568delinsGCTT	GRCh38
NC_000009.11:g.100437847_100437850delinsGCTT , CM000671.1:g.100437847_100437850delinsGCTT	GRCh37
NC_000009.10:g.99477668_99477671delinsGCTT	NCBI36
NG_011642.1:g.26842_26845delinsAAGC , LRG_471:g.26842_26845delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.693_696delinsAAGC MANE Select	ENSP00000364270.5:p.Arg231=
ENST00000375128.4:c.693_696delinsAAGC	ENSP00000364270.4:p.Arg231=
ENST00000462523.5:c.*129_*132delinsAAGC	ENSP00000433006.1:n.*129_*132delinsAAGC
ENST00000485042.1:n.205_208delinsAAGC
NM_000380.3:c.693_696delinsAAGC , LRG_471t1:c.693_696delinsAAGC	NP_000371.1:p.Arg231=
NR_027302.1:n.1041_1044delinsAAGC
XM_006717278.1:c.693_696delinsAAGC	XP_006717341.1:p.Arg231=
XM_011518988.1:c.693_696delinsAAGC	XP_011517290.1:p.Arg231=
XR_929839.1:n.1224_1227delinsAAGC
NM_001354975.1:c.567_570delinsAAGC	NP_001341904.1:p.Arg189=
NR_149091.1:n.538_541delinsAAGC
NR_149092.1:n.704_707delinsAAGC
NR_149093.1:n.1230_1233delinsAAGC
NR_149094.1:n.1124_1127delinsAAGC
NM_000380.4:c.693_696delinsAAGC MANE Select	NP_000371.1:p.Arg231=
NM_001354975.2:c.567_570delinsAAGC	NP_001341904.1:p.Arg189=
NR_027302.2:n.972_975delinsAAGC
NR_149091.2:n.469_472delinsAAGC
NR_149092.2:n.635_638delinsAAGC
NR_149093.2:n.1161_1164delinsAAGC
NR_149094.2:n.1055_1058delinsAAGC