Canonical Allele Identifier: CA278644274

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 1280010
• ClinVar RCV Id: RCV001695162
• dbSNP Id: rs67611747
• gnomAD v2: 16-17232083-TATTA-T
• gnomAD v3: 16-17138226-TATTA-T
• gnomAD v4: 16-17138226-TATTA-T
• MyVariant Identifiers: chr16:g.17232084_17232087del (hg19) ; chr16:g.17138227_17138230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138231_17138234del , CM000678.2:g.17138231_17138234del	GRCh38
NC_000016.9:g.17232088_17232091del , CM000678.1:g.17232088_17232091del	GRCh37
NC_000016.8:g.17139589_17139592del	NCBI36
NG_015843.1:g.337652_337655del
NG_015843.2:g.337652_337655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+125_1764+128del MANE Select	ENSP00000261381.6:n.1764+125_1764+128del
ENST00000261381.6:c.1764+125_1764+128del	ENSP00000261381.6:n.1764+125_1764+128del
NM_022166.3:c.1764+125_1764+128del	NP_071449.1:n.1764+125_1764+128del
XM_011522574.1:c.1764+125_1764+128del	XP_011520876.1:n.1764+125_1764+128del
XR_933140.1:n.336-11_336-8del
XR_933141.1:n.175-11_175-8del
XR_933143.1:n.237-11_237-8del
NR_135179.1:n.147-11_147-8del
XM_017023539.2:c.1764+125_1764+128del	XP_016879028.1:n.1764+125_1764+128del
XM_017023540.2:c.1764+125_1764+128del	XP_016879029.1:n.1764+125_1764+128del
NM_022166.4:c.1764+125_1764+128del MANE Select	NP_071449.1:n.1764+125_1764+128del