Canonical Allele Identifier: CA589582345

Gene: XPA

Linked Data

• dbSNP Id: rs1241937738
• gnomAD v2: 9-100438036-CAA-C
• gnomAD v3: 9-97675754-CAA-C
• gnomAD v4: 9-97675754-CAA-C
• MyVariant Identifiers: chr9:g.100438037_100438038del (hg19) ; chr9:g.97675755_97675756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675756_97675757del , CM000671.2:g.97675756_97675757del	GRCh38
NC_000009.11:g.100438038_100438039del , CM000671.1:g.100438038_100438039del	GRCh37
NC_000009.10:g.99477859_99477860del	NCBI36
NG_011642.1:g.26654_26655del , LRG_471:g.26654_26655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-169_674-168del MANE Select	ENSP00000364270.5:n.674-169_674-168del
ENST00000375128.4:c.674-169_674-168del	ENSP00000364270.4:n.674-169_674-168del
ENST00000462523.5:c.*110-169_*110-168del	ENSP00000433006.1:n.*110-169_*110-168del
ENST00000485042.1:n.185+15_185+16del
NM_000380.3:c.674-169_674-168del , LRG_471t1:c.674-169_674-168del	NP_000371.1:n.674-169_674-168del
NR_027302.1:n.1022-169_1022-168del
XM_006717278.1:c.674-169_674-168del	XP_006717341.1:n.674-169_674-168del
XM_011518988.1:c.674-169_674-168del	XP_011517290.1:n.674-169_674-168del
XR_929839.1:n.1204+15_1204+16del
NM_001354975.1:c.548-169_548-168del	NP_001341904.1:n.548-169_548-168del
NR_149091.1:n.519-169_519-168del
NR_149092.1:n.685-169_685-168del
NR_149093.1:n.1210+15_1210+16del
NR_149094.1:n.1104+15_1104+16del
NM_000380.4:c.674-169_674-168del MANE Select	NP_000371.1:n.674-169_674-168del
NM_001354975.2:c.548-169_548-168del	NP_001341904.1:n.548-169_548-168del
NR_027302.2:n.953-169_953-168del
NR_149091.2:n.450-169_450-168del
NR_149092.2:n.616-169_616-168del
NR_149093.2:n.1141+15_1141+16del
NR_149094.2:n.1035+15_1035+16del