Canonical Allele Identifier: CA7927852
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1585996
ClinVar RCV Id: RCV002097940
dbSNP Id: rs762567877
ExAC: 16:17232406 ACCCAGCCTGAGACCTCT / A
gnomAD v2: 16-17232406-ACCCAGCCTGAGACCTCT-A
gnomAD v3: 16-17138549-ACCCAGCCTGAGACCTCT-A
gnomAD v4: 16-17138549-ACCCAGCCTGAGACCTCT-A
MyVariant Identifiers: chr16:g.17232407_17232423del (hg19) chr16:g.17138550_17138566del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138558_17138574del , CM000678.2:g.17138558_17138574del GRCh38
NC_000016.9:g.17232415_17232431del , CM000678.1:g.17232415_17232431del GRCh37
NC_000016.8:g.17139916_17139932del NCBI36
NG_015843.1:g.337316_337332del
NG_015843.2:g.337316_337332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1588-35_1588-19del MANE Select ENSP00000261381.6:n.1588-35_1588-19del
ENST00000261381.6:c.1588-35_1588-19del ENSP00000261381.6:n.1588-35_1588-19del
NM_022166.3:c.1588-35_1588-19del NP_071449.1:n.1588-35_1588-19del
XM_011522574.1:c.1588-35_1588-19del XP_011520876.1:n.1588-35_1588-19del
XR_933141.1:n.491_507del
NR_135179.1:n.463_479del
XM_017023539.2:c.1588-35_1588-19del XP_016879028.1:n.1588-35_1588-19del
XM_017023540.2:c.1588-35_1588-19del XP_016879029.1:n.1588-35_1588-19del
NM_022166.4:c.1588-35_1588-19del MANE Select NP_071449.1:n.1588-35_1588-19del
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