Canonical Allele Identifier: CA2690901748

Gene: XPA

Linked Data

• gnomAD v4: 9-97675722-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675726del , CM000671.2:g.97675726del	GRCh38
NC_000009.11:g.100438008del , CM000671.1:g.100438008del	GRCh37
NC_000009.10:g.99477829del	NCBI36
NG_011642.1:g.26687del , LRG_471:g.26687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-136del MANE Select	ENSP00000364270.5:n.674-136del
ENST00000375128.4:c.674-136del	ENSP00000364270.4:n.674-136del
ENST00000462523.5:c.*110-136del	ENSP00000433006.1:n.*110-136del
ENST00000485042.1:n.185+48del
NM_000380.3:c.674-136del , LRG_471t1:c.674-136del	NP_000371.1:n.674-136del
NR_027302.1:n.1022-136del
XM_006717278.1:c.674-136del	XP_006717341.1:n.674-136del
XM_011518988.1:c.674-136del	XP_011517290.1:n.674-136del
XR_929839.1:n.1204+48del
NM_001354975.1:c.548-136del	NP_001341904.1:n.548-136del
NR_149091.1:n.519-136del
NR_149092.1:n.685-136del
NR_149093.1:n.1210+48del
NR_149094.1:n.1104+48del
NM_000380.4:c.674-136del MANE Select	NP_000371.1:n.674-136del
NM_001354975.2:c.548-136del	NP_001341904.1:n.548-136del
NR_027302.2:n.953-136del
NR_149091.2:n.450-136del
NR_149092.2:n.616-136del
NR_149093.2:n.1141+48del
NR_149094.2:n.1035+48del