Canonical Allele Identifier: CA5148661

Gene: XPA

Linked Data

• dbSNP Id: rs753525199
• ExAC: 9:100437714 T / TA
• gnomAD v2: 9-100437714-T-TA
• gnomAD v3: 9-97675432-T-TA
• gnomAD v4: 9-97675432-T-TA
• MyVariant Identifiers: chr9:g.100437715_100437716insA (hg19) ; chr9:g.100437714_100437715insA (hg19) ; chr9:g.97675433_97675434insA (hg38) ; chr9:g.97675432_97675433insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675438dup , CM000671.2:g.97675438dup	GRCh38
NC_000009.11:g.100437720dup , CM000671.1:g.100437720dup	GRCh37
NC_000009.10:g.99477541dup	NCBI36
NG_011642.1:g.26977dup , LRG_471:g.26977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*6dup MANE Select	ENSP00000364270.5:n.*6dup
ENST00000375128.4:c.*6dup	ENSP00000364270.4:n.*6dup
ENST00000462523.5:c.*264dup	ENSP00000433006.1:n.*264dup
ENST00000485042.1:n.340dup
NM_000380.3:c.*6dup , LRG_471t1:c.*6dup	NP_000371.1:n.*6dup
NR_027302.1:n.1176dup
XM_006717278.1:c.772+56dup	XP_006717341.1:n.772+56dup
XM_011518988.1:c.772+56dup	XP_011517290.1:n.772+56dup
NM_001354975.1:c.*6dup	NP_001341904.1:n.*6dup
NR_149091.1:n.673dup
NR_149092.1:n.839dup
NR_149093.1:n.1365dup
NR_149094.1:n.1259dup
NM_000380.4:c.*6dup MANE Select	NP_000371.1:n.*6dup
NM_001354975.2:c.*6dup	NP_001341904.1:n.*6dup
NR_027302.2:n.1107dup
NR_149091.2:n.604dup
NR_149092.2:n.770dup
NR_149093.2:n.1296dup
NR_149094.2:n.1190dup