Canonical Allele Identifier: CA2690901692

Gene: XPA

Linked Data

• gnomAD v4: 9-97675571-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675572_97675573insAA , CM000671.2:g.97675572_97675573insAA	GRCh38
NC_000009.11:g.100437854_100437855insAA , CM000671.1:g.100437854_100437855insAA	GRCh37
NC_000009.10:g.99477675_99477676insAA	NCBI36
NG_011642.1:g.26838_26839insTT , LRG_471:g.26838_26839insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.689_690insTT MANE Select	ENSP00000364270.5:p.Arg231Ter
ENST00000375128.4:c.689_690insTT	ENSP00000364270.4:p.Arg231Ter
ENST00000462523.5:c.*125_*126insTT	ENSP00000433006.1:n.*125_*126insTT
ENST00000485042.1:n.201_202insTT
NM_000380.3:c.689_690insTT , LRG_471t1:c.689_690insTT	NP_000371.1:p.Arg231Ter
NR_027302.1:n.1037_1038insTT
XM_006717278.1:c.689_690insTT	XP_006717341.1:p.Arg231Ter
XM_011518988.1:c.689_690insTT	XP_011517290.1:p.Arg231Ter
XR_929839.1:n.1220_1221insTT
NM_001354975.1:c.563_564insTT	NP_001341904.1:p.Arg189Ter
NR_149091.1:n.534_535insTT
NR_149092.1:n.700_701insTT
NR_149093.1:n.1226_1227insTT
NR_149094.1:n.1120_1121insTT
NM_000380.4:c.689_690insTT MANE Select	NP_000371.1:p.Arg231Ter
NM_001354975.2:c.563_564insTT	NP_001341904.1:p.Arg189Ter
NR_027302.2:n.968_969insTT
NR_149091.2:n.465_466insTT
NR_149092.2:n.631_632insTT
NR_149093.2:n.1157_1158insTT
NR_149094.2:n.1051_1052insTT