Canonical Allele Identifier: CA542263001

Gene: XYLB

Linked Data

• dbSNP Id: rs1420790410
• gnomAD v2: 3-38442493-ATTTG-A
• gnomAD v3: 3-38401002-ATTTG-A
• gnomAD v4: 3-38401002-ATTTG-A
• MyVariant Identifiers: chr3:g.38442494_38442497del (hg19) ; chr3:g.38401003_38401006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38401008_38401011del , CM000665.2:g.38401008_38401011del	GRCh38
NC_000003.11:g.38442499_38442502del , CM000665.1:g.38442499_38442502del	GRCh37
NC_000003.10:g.38417503_38417506del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000207870.8:c.1533+23_1533+26del MANE Select	ENSP00000207870.3:n.1533+23_1533+26del
ENST00000649234.1:c.*768+23_*768+26del	ENSP00000497023.1:n.*768+23_*768+26del
ENST00000650590.1:c.1452+23_1452+26del	ENSP00000496840.1:n.1452+23_1452+26del
ENST00000207870.7:c.1533+23_1533+26del	ENSP00000207870.3:n.1533+23_1533+26del
ENST00000424034.5:c.*1196+23_*1196+26del	ENSP00000398845.1:n.*1196+23_*1196+26del
ENST00000472721.1:n.410+23_410+26del
NM_005108.3:c.1533+23_1533+26del	NP_005099.2:n.1533+23_1533+26del
XM_011534325.1:c.1533+23_1533+26del	XP_011532627.1:n.1533+23_1533+26del
XM_011534326.1:c.1452+23_1452+26del	XP_011532628.1:n.1452+23_1452+26del
XM_011534327.1:c.1533+23_1533+26del	XP_011532629.1:n.1533+23_1533+26del
XM_011534328.1:c.1533+23_1533+26del	XP_011532630.1:n.1533+23_1533+26del
XM_011534329.1:c.1533+23_1533+26del	XP_011532631.1:n.1533+23_1533+26del
XM_011534330.1:c.1533+23_1533+26del	XP_011532632.1:n.1533+23_1533+26del
NM_001349178.1:c.1533+23_1533+26del	NP_001336107.1:n.1533+23_1533+26del
NM_001349179.1:c.1122+23_1122+26del	NP_001336108.1:n.1122+23_1122+26del
NR_146068.1:n.1450+23_1450+26del
XM_011534325.3:c.1533+23_1533+26del	XP_011532627.1:n.1533+23_1533+26del
XM_011534327.2:c.1533+23_1533+26del	XP_011532629.1:n.1533+23_1533+26del
XM_011534328.3:c.1533+23_1533+26del	XP_011532630.1:n.1533+23_1533+26del
XM_011534329.2:c.1533+23_1533+26del	XP_011532631.1:n.1533+23_1533+26del
XM_011534330.3:c.1533+23_1533+26del	XP_011532632.1:n.1533+23_1533+26del
XM_017007595.1:c.1122+23_1122+26del	XP_016863084.1:n.1122+23_1122+26del
XM_017007596.1:c.1335+23_1335+26del	XP_016863085.1:n.1335+23_1335+26del
XM_017007597.1:c.852+23_852+26del	XP_016863086.1:n.852+23_852+26del
XM_024453850.1:c.1335+23_1335+26del	XP_024309618.1:n.1335+23_1335+26del
NM_001349178.2:c.1533+23_1533+26del	NP_001336107.1:n.1533+23_1533+26del
NM_005108.4:c.1533+23_1533+26del MANE Select	NP_005099.2:n.1533+23_1533+26del
NR_146068.2:n.1425+23_1425+26del
NM_001349179.2:c.1122+23_1122+26del	NP_001336108.1:n.1122+23_1122+26del