Canonical Allele Identifier: CA7927794

Gene: XYLT1

Linked Data

• ClinVar Variation Id: 2884790
• ClinVar RCV Id: RCV003597838
• dbSNP Id: rs770726735
• ExAC: 16:17232201 G / GAA
• gnomAD v2: 16-17232201-G-GAA
• gnomAD v3: 16-17138344-G-GAA
• gnomAD v4: 16-17138344-G-GAA
• MyVariant Identifiers: chr16:g.17232201_17232202insAA (hg19) ; chr16:g.17138344_17138345insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138346_17138347dup , CM000678.2:g.17138346_17138347dup	GRCh38
NC_000016.9:g.17232203_17232204dup , CM000678.1:g.17232203_17232204dup	GRCh37
NC_000016.8:g.17139704_17139705dup	NCBI36
NG_015843.1:g.337536_337537dup
NG_015843.2:g.337536_337537dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+9_1764+10dup MANE Select	ENSP00000261381.6:n.1764+9_1764+10dup
ENST00000261381.6:c.1764+9_1764+10dup	ENSP00000261381.6:n.1764+9_1764+10dup
NM_022166.3:c.1764+9_1764+10dup	NP_071449.1:n.1764+9_1764+10dup
XM_011522574.1:c.1764+9_1764+10dup	XP_011520876.1:n.1764+9_1764+10dup
XR_933140.1:n.440_441dup
XR_933141.1:n.279_280dup
XR_933143.1:n.341_342dup
NR_135179.1:n.251_252dup
XM_017023539.2:c.1764+9_1764+10dup	XP_016879028.1:n.1764+9_1764+10dup
XM_017023540.2:c.1764+9_1764+10dup	XP_016879029.1:n.1764+9_1764+10dup
NM_022166.4:c.1764+9_1764+10dup MANE Select	NP_071449.1:n.1764+9_1764+10dup