Canonical Allele Identifier: CA2520661516

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675729_97675730insTTTAAAT , CM000671.2:g.97675729_97675730insTTTAAAT	GRCh38
NC_000009.11:g.100438011_100438012insTTTAAAT , CM000671.1:g.100438011_100438012insTTTAAAT	GRCh37
NC_000009.10:g.99477832_99477833insTTTAAAT	NCBI36
NG_011642.1:g.26680_26681insATTTAAA , LRG_471:g.26680_26681insATTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-143_674-142insATTTAAA MANE Select	ENSP00000364270.5:n.674-143_674-142insATTTAAA
ENST00000375128.4:c.674-143_674-142insATTTAAA	ENSP00000364270.4:n.674-143_674-142insATTTAAA
ENST00000462523.5:c.*110-143_*110-142insATTTAAA	ENSP00000433006.1:n.*110-143_*110-142insATTTAAA
ENST00000485042.1:n.185+41_185+42insATTTAAA
NM_000380.3:c.674-143_674-142insATTTAAA , LRG_471t1:c.674-143_674-142insATTTAAA	NP_000371.1:n.674-143_674-142insATTTAAA
NR_027302.1:n.1022-143_1022-142insATTTAAA
XM_006717278.1:c.674-143_674-142insATTTAAA	XP_006717341.1:n.674-143_674-142insATTTAAA
XM_011518988.1:c.674-143_674-142insATTTAAA	XP_011517290.1:n.674-143_674-142insATTTAAA
XR_929839.1:n.1204+41_1204+42insATTTAAA
NM_001354975.1:c.548-143_548-142insATTTAAA	NP_001341904.1:n.548-143_548-142insATTTAAA
NR_149091.1:n.519-143_519-142insATTTAAA
NR_149092.1:n.685-143_685-142insATTTAAA
NR_149093.1:n.1210+41_1210+42insATTTAAA
NR_149094.1:n.1104+41_1104+42insATTTAAA
NM_000380.4:c.674-143_674-142insATTTAAA MANE Select	NP_000371.1:n.674-143_674-142insATTTAAA
NM_001354975.2:c.548-143_548-142insATTTAAA	NP_001341904.1:n.548-143_548-142insATTTAAA
NR_027302.2:n.953-143_953-142insATTTAAA
NR_149091.2:n.450-143_450-142insATTTAAA
NR_149092.2:n.616-143_616-142insATTTAAA
NR_149093.2:n.1141+41_1141+42insATTTAAA
NR_149094.2:n.1035+41_1035+42insATTTAAA