Canonical Allele Identifier: CA2579395754

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675559del , CM000671.2:g.97675559del	GRCh38
NC_000009.11:g.100437841del , CM000671.1:g.100437841del	GRCh37
NC_000009.10:g.99477662del	NCBI36
NG_011642.1:g.26851del , LRG_471:g.26851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.702del MANE Select	ENSP00000364270.5:p.Trp235GlyfsTer18
ENST00000375128.4:c.702del	ENSP00000364270.4:p.Trp235GlyfsTer18
ENST00000462523.5:c.*138del	ENSP00000433006.1:n.*138del
ENST00000485042.1:n.214del
NM_000380.3:c.702del , LRG_471t1:c.702del	NP_000371.1:p.Trp235GlyfsTer18
NR_027302.1:n.1050del
XM_006717278.1:c.702del	XP_006717341.1:p.Trp235GlyfsTer18
XM_011518988.1:c.702del	XP_011517290.1:p.Trp235GlyfsTer18
XR_929839.1:n.1233del
NM_001354975.1:c.576del	NP_001341904.1:p.Trp193GlyfsTer18
NR_149091.1:n.547del
NR_149092.1:n.713del
NR_149093.1:n.1239del
NR_149094.1:n.1133del
NM_000380.4:c.702del MANE Select	NP_000371.1:p.Trp235GlyfsTer18
NM_001354975.2:c.576del	NP_001341904.1:p.Trp193GlyfsTer18
NR_027302.2:n.981del
NR_149091.2:n.478del
NR_149092.2:n.644del
NR_149093.2:n.1170del
NR_149094.2:n.1064del