Canonical Allele Identifier: CA2579395755

Gene: XPA

Linked Data

• gnomAD v4: 9-97675572-ACTGCTCGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675573_97675581del , CM000671.2:g.97675573_97675581del	GRCh38
NC_000009.11:g.100437855_100437863del , CM000671.1:g.100437855_100437863del	GRCh37
NC_000009.10:g.99477676_99477684del	NCBI36
NG_011642.1:g.26829_26837del , LRG_471:g.26829_26837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.680_688del MANE Select	ENSP00000364270.5:p.Arg227_Val230delinsLeu
ENST00000375128.4:c.680_688del	ENSP00000364270.4:p.Arg227_Val230delinsLeu
ENST00000462523.5:c.*116_*124del	ENSP00000433006.1:n.*116_*124del
ENST00000485042.1:n.192_200del
NM_000380.3:c.680_688del , LRG_471t1:c.680_688del	NP_000371.1:p.Arg227_Val230delinsLeu
NR_027302.1:n.1028_1036del
XM_006717278.1:c.680_688del	XP_006717341.1:p.Arg227_Val230delinsLeu
XM_011518988.1:c.680_688del	XP_011517290.1:p.Arg227_Val230delinsLeu
XR_929839.1:n.1211_1219del
NM_001354975.1:c.554_562del	NP_001341904.1:p.Arg185_Val188delinsLeu
NR_149091.1:n.525_533del
NR_149092.1:n.691_699del
NR_149093.1:n.1217_1225del
NR_149094.1:n.1111_1119del
NM_000380.4:c.680_688del MANE Select	NP_000371.1:p.Arg227_Val230delinsLeu
NM_001354975.2:c.554_562del	NP_001341904.1:p.Arg185_Val188delinsLeu
NR_027302.2:n.959_967del
NR_149091.2:n.456_464del
NR_149092.2:n.622_630del
NR_149093.2:n.1148_1156del
NR_149094.2:n.1042_1050del