Canonical Allele Identifier: CA645294088
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426319
ClinVar RCV Id: RCV000489929 RCV000758147
dbSNP Id: rs1085307563
MyVariant Identifiers: chr16:g.17232243_17232246dup (hg19) chr16:g.17232242_17232243insTCAT (hg19) chr16:g.17138386_17138389dup (hg38) chr16:g.17138385_17138386insTCAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138387_17138390dup , CM000678.2:g.17138387_17138390dup GRCh38
NC_000016.9:g.17232244_17232247dup , CM000678.1:g.17232244_17232247dup GRCh37
NC_000016.8:g.17139745_17139748dup NCBI36
NG_015843.1:g.337493_337496dup
NG_015843.2:g.337493_337496dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261381.7:c.1730_1733dup MANE Select ENSP00000261381.6:p.Asp578GlufsTer2
ENST00000261381.6:c.1730_1733dup ENSP00000261381.6:p.Asp578GlufsTer2
NM_022166.3:c.1730_1733dup NP_071449.1:p.Asp578GlufsTer2
XM_011522574.1:c.1730_1733dup XP_011520876.1:p.Asp578GlufsTer2
XR_933141.1:n.320_323dup
NR_135179.1:n.292_295dup
XM_017023539.2:c.1730_1733dup XP_016879028.1:p.Asp578GlufsTer2
XM_017023540.2:c.1730_1733dup XP_016879029.1:p.Asp578GlufsTer2
NM_022166.4:c.1730_1733dup MANE Select NP_071449.1:p.Asp578GlufsTer2
Search 100 bp 5'
Search 100 bp 3'