Canonical Allele Identifier: CA1866632424

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675761_97675770delinsACTTTCTTAC , CM000671.2:g.97675761_97675770delinsACTTTCTTAC	GRCh38
NC_000009.11:g.100438043_100438052delinsACTTTCTTAC , CM000671.1:g.100438043_100438052delinsACTTTCTTAC	GRCh37
NC_000009.10:g.99477864_99477873delinsACTTTCTTAC	NCBI36
NG_011642.1:g.26640_26649delinsGTAAGAAAGT , LRG_471:g.26640_26649delinsGTAAGAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-183_674-174delinsGTAAGAAAGT MANE Select	ENSP00000364270.5:n.674-183_674-174delinsGTAAGAAAGT
ENST00000375128.4:c.674-183_674-174delinsGTAAGAAAGT	ENSP00000364270.4:n.674-183_674-174delinsGTAAGAAAGT
ENST00000462523.5:c.*110-183_*110-174delinsGTAAGAAAGT	ENSP00000433006.1:n.*110-183_*110-174delinsGTAAGAAAGT
ENST00000485042.1:n.185+1_185+10delinsGTAAGAAAGT
NM_000380.3:c.674-183_674-174delinsGTAAGAAAGT , LRG_471t1:c.674-183_674-174delinsGTAAGAAAGT	NP_000371.1:n.674-183_674-174delinsGTAAGAAAGT
NR_027302.1:n.1022-183_1022-174delinsGTAAGAAAGT
XM_006717278.1:c.674-183_674-174delinsGTAAGAAAGT	XP_006717341.1:n.674-183_674-174delinsGTAAGAAAGT
XM_011518988.1:c.674-183_674-174delinsGTAAGAAAGT	XP_011517290.1:n.674-183_674-174delinsGTAAGAAAGT
XR_929839.1:n.1204+1_1204+10delinsGTAAGAAAGT
NM_001354975.1:c.548-183_548-174delinsGTAAGAAAGT	NP_001341904.1:n.548-183_548-174delinsGTAAGAAAGT
NR_149091.1:n.519-183_519-174delinsGTAAGAAAGT
NR_149092.1:n.685-183_685-174delinsGTAAGAAAGT
NR_149093.1:n.1210+1_1210+10delinsGTAAGAAAGT
NR_149094.1:n.1104+1_1104+10delinsGTAAGAAAGT
NM_000380.4:c.674-183_674-174delinsGTAAGAAAGT MANE Select	NP_000371.1:n.674-183_674-174delinsGTAAGAAAGT
NM_001354975.2:c.548-183_548-174delinsGTAAGAAAGT	NP_001341904.1:n.548-183_548-174delinsGTAAGAAAGT
NR_027302.2:n.953-183_953-174delinsGTAAGAAAGT
NR_149091.2:n.450-183_450-174delinsGTAAGAAAGT
NR_149092.2:n.616-183_616-174delinsGTAAGAAAGT
NR_149093.2:n.1141+1_1141+10delinsGTAAGAAAGT
NR_149094.2:n.1035+1_1035+10delinsGTAAGAAAGT