Canonical Allele Identifier: CA589582375

Gene: XPA

Linked Data

• dbSNP Id: rs1587735752
• gnomAD v2: 9-100437646-A-ATTTTTTTTTTTT
• MyVariant Identifiers: chr9:g.100437646_100437647insTTTTTTTTTTTT (hg19) ; chr9:g.97675364_97675365insTTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675368_97675369insTTTTTTTTTTTT , CM000671.2:g.97675368_97675369insTTTTTTTTTTTT	GRCh38
NC_000009.11:g.100437650_100437651insTTTTTTTTTTTT , CM000671.1:g.100437650_100437651insTTTTTTTTTTTT	GRCh37
NC_000009.10:g.99477471_99477472insTTTTTTTTTTTT	NCBI36
NG_011642.1:g.27045_27046insAAAAAAAAAAAA , LRG_471:g.27045_27046insAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*74_*75insAAAAAAAAAAAA MANE Select	ENSP00000364270.5:n.*74_*75insAAAAAAAAAAAA
ENST00000375128.4:c.*74_*75insAAAAAAAAAAAA	ENSP00000364270.4:n.*74_*75insAAAAAAAAAAAA
ENST00000462523.5:c.*332_*333insAAAAAAAAAAAA	ENSP00000433006.1:n.*332_*333insAAAAAAAAAAAA
ENST00000485042.1:n.408_409insAAAAAAAAAAAA
NM_000380.3:c.*74_*75insAAAAAAAAAAAA , LRG_471t1:c.*74_*75insAAAAAAAAAAAA	NP_000371.1:n.*74_*75insAAAAAAAAAAAA
NR_027302.1:n.1244_1245insAAAAAAAAAAAA
XM_006717278.1:c.772+124_772+125insAAAAAAAAAAAA	XP_006717341.1:n.772+124_772+125insAAAAAAAAAAAA
XM_011518988.1:c.772+124_772+125insAAAAAAAAAAAA	XP_011517290.1:n.772+124_772+125insAAAAAAAAAAAA
NM_001354975.1:c.*74_*75insAAAAAAAAAAAA	NP_001341904.1:n.*74_*75insAAAAAAAAAAAA
NR_149091.1:n.741_742insAAAAAAAAAAAA
NR_149092.1:n.907_908insAAAAAAAAAAAA
NR_149093.1:n.1433_1434insAAAAAAAAAAAA
NR_149094.1:n.1327_1328insAAAAAAAAAAAA
NM_000380.4:c.*74_*75insAAAAAAAAAAAA MANE Select	NP_000371.1:n.*74_*75insAAAAAAAAAAAA
NM_001354975.2:c.*74_*75insAAAAAAAAAAAA	NP_001341904.1:n.*74_*75insAAAAAAAAAAAA
NR_027302.2:n.1175_1176insAAAAAAAAAAAA
NR_149091.2:n.672_673insAAAAAAAAAAAA
NR_149092.2:n.838_839insAAAAAAAAAAAA
NR_149093.2:n.1364_1365insAAAAAAAAAAAA
NR_149094.2:n.1258_1259insAAAAAAAAAAAA