Canonical Allele Identifier: CA2690901690

Gene: XPA

Linked Data

• gnomAD v4: 9-97675495-TGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675496_97675498del , CM000671.2:g.97675496_97675498del	GRCh38
NC_000009.11:g.100437778_100437780del , CM000671.1:g.100437778_100437780del	GRCh37
NC_000009.10:g.99477599_99477601del	NCBI36
NG_011642.1:g.26912_26914del , LRG_471:g.26912_26914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.763_765del MANE Select	ENSP00000364270.5:p.Asp255del
ENST00000375128.4:c.763_765del	ENSP00000364270.4:p.Asp255del
ENST00000462523.5:c.*199_*201del	ENSP00000433006.1:n.*199_*201del
ENST00000485042.1:n.275_277del
NM_000380.3:c.763_765del , LRG_471t1:c.763_765del	NP_000371.1:p.Asp255del
NR_027302.1:n.1111_1113del
XM_006717278.1:c.763_765del	XP_006717341.1:p.Asp255del
XM_011518988.1:c.763_765del	XP_011517290.1:p.Asp255del
XR_929839.1:n.1294_1296del
NM_001354975.1:c.637_639del	NP_001341904.1:p.Asp213del
NR_149091.1:n.608_610del
NR_149092.1:n.774_776del
NR_149093.1:n.1300_1302del
NR_149094.1:n.1194_1196del
NM_000380.4:c.763_765del MANE Select	NP_000371.1:p.Asp255del
NM_001354975.2:c.637_639del	NP_001341904.1:p.Asp213del
NR_027302.2:n.1042_1044del
NR_149091.2:n.539_541del
NR_149092.2:n.705_707del
NR_149093.2:n.1231_1233del
NR_149094.2:n.1125_1127del