Canonical Allele Identifier: CA196742187

Gene: XPA

Linked Data

• dbSNP Id: rs919014517
• gnomAD v3: 9-97675676-ATG-A
• gnomAD v4: 9-97675676-ATG-A
• MyVariant Identifiers: chr9:g.100437959_100437960del (hg19) ; chr9:g.97675677_97675678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675686_97675687del , CM000671.2:g.97675686_97675687del	GRCh38
NC_000009.11:g.100437968_100437969del , CM000671.1:g.100437968_100437969del	GRCh37
NC_000009.10:g.99477789_99477790del	NCBI36
NG_011642.1:g.26732_26733del , LRG_471:g.26732_26733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-91_674-90del MANE Select	ENSP00000364270.5:n.674-91_674-90del
ENST00000375128.4:c.674-91_674-90del	ENSP00000364270.4:n.674-91_674-90del
ENST00000462523.5:c.*110-91_*110-90del	ENSP00000433006.1:n.*110-91_*110-90del
ENST00000485042.1:n.186-91_186-90del
NM_000380.3:c.674-91_674-90del , LRG_471t1:c.674-91_674-90del	NP_000371.1:n.674-91_674-90del
NR_027302.1:n.1022-91_1022-90del
XM_006717278.1:c.674-91_674-90del	XP_006717341.1:n.674-91_674-90del
XM_011518988.1:c.674-91_674-90del	XP_011517290.1:n.674-91_674-90del
XR_929839.1:n.1205-91_1205-90del
NM_001354975.1:c.548-91_548-90del	NP_001341904.1:n.548-91_548-90del
NR_149091.1:n.519-91_519-90del
NR_149092.1:n.685-91_685-90del
NR_149093.1:n.1211-91_1211-90del
NR_149094.1:n.1105-91_1105-90del
NM_000380.4:c.674-91_674-90del MANE Select	NP_000371.1:n.674-91_674-90del
NM_001354975.2:c.548-91_548-90del	NP_001341904.1:n.548-91_548-90del
NR_027302.2:n.953-91_953-90del
NR_149091.2:n.450-91_450-90del
NR_149092.2:n.616-91_616-90del
NR_149093.2:n.1142-91_1142-90del
NR_149094.2:n.1036-91_1036-90del