Canonical Allele Identifier: CA7927844
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 782892
ClinVar RCV Id: RCV001521180
dbSNP Id: rs545474455
ExAC: 16:17232390 T / TGCAGGGGAGAGAGGGACCCAGCCTGA
gnomAD v2: 16-17232390-T-TGCAGGGGAGAGAGGGACCCAGCCTGA
gnomAD v3: 16-17138533-T-TGCAGGGGAGAGAGGGACCCAGCCTGA
gnomAD v4: 16-17138533-T-TGCAGGGGAGAGAGGGACCCAGCCTGA
MyVariant Identifiers: chr16:g.17232390_17232391insGCAGGGGAGAGAGGGACCCAGCCTGA (hg19) chr16:g.17138533_17138534insGCAGGGGAGAGAGGGACCCAGCCTGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138535_17138560dup , CM000678.2:g.17138535_17138560dup GRCh38
NC_000016.9:g.17232392_17232417dup , CM000678.1:g.17232392_17232417dup GRCh37
NC_000016.8:g.17139893_17139918dup NCBI36
NG_015843.1:g.337323_337348dup
NG_015843.2:g.337323_337348dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261381.7:c.1588-28_1588-3dup MANE Select ENSP00000261381.6:n.1588-28_1588-3dup
ENST00000261381.6:c.1588-28_1588-3dup ENSP00000261381.6:n.1588-28_1588-3dup
NM_022166.3:c.1588-28_1588-3dup NP_071449.1:n.1588-28_1588-3dup
XM_011522574.1:c.1588-28_1588-3dup XP_011520876.1:n.1588-28_1588-3dup
XR_933141.1:n.468_493dup
NR_135179.1:n.440_465dup
XM_017023539.2:c.1588-28_1588-3dup XP_016879028.1:n.1588-28_1588-3dup
XM_017023540.2:c.1588-28_1588-3dup XP_016879029.1:n.1588-28_1588-3dup
NM_022166.4:c.1588-28_1588-3dup MANE Select NP_071449.1:n.1588-28_1588-3dup
Search 100 bp 5'
Search 100 bp 3'