Canonical Allele Identifier: CA913142022

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437847_100437850del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675565_97675568del , CM000671.2:g.97675565_97675568del	GRCh38
NC_000009.11:g.100437847_100437850del , CM000671.1:g.100437847_100437850del	GRCh37
NC_000009.10:g.99477668_99477671del	NCBI36
NG_011642.1:g.26843_26846del , LRG_471:g.26843_26846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.694_697del MANE Select	ENSP00000364270.5:p.Ser232AlafsTer20
ENST00000375128.4:c.694_697del	ENSP00000364270.4:p.Ser232AlafsTer20
ENST00000462523.5:c.*130_*133del	ENSP00000433006.1:n.*130_*133del
ENST00000485042.1:n.206_209del
NM_000380.3:c.694_697del , LRG_471t1:c.694_697del	NP_000371.1:p.Ser232AlafsTer20
NR_027302.1:n.1042_1045del
XM_006717278.1:c.694_697del	XP_006717341.1:p.Ser232AlafsTer20
XM_011518988.1:c.694_697del	XP_011517290.1:p.Ser232AlafsTer20
XR_929839.1:n.1225_1228del
NM_001354975.1:c.568_571del	NP_001341904.1:p.Ser190AlafsTer20
NR_149091.1:n.539_542del
NR_149092.1:n.705_708del
NR_149093.1:n.1231_1234del
NR_149094.1:n.1125_1128del
NM_000380.4:c.694_697del MANE Select	NP_000371.1:p.Ser232AlafsTer20
NM_001354975.2:c.568_571del	NP_001341904.1:p.Ser190AlafsTer20
NR_027302.2:n.973_976del
NR_149091.2:n.470_473del
NR_149092.2:n.636_639del
NR_149093.2:n.1162_1165del
NR_149094.2:n.1056_1059del