Canonical Allele Identifier: CA2631987552
Gene: XYLT1 HGNC NCBI

Linked Data

gnomAD v4: 16-17138408-A-AGTCCACG
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138409_17138415dup , CM000678.2:g.17138409_17138415dup GRCh38
NC_000016.9:g.17232266_17232272dup , CM000678.1:g.17232266_17232272dup GRCh37
NC_000016.8:g.17139767_17139773dup NCBI36
NG_015843.1:g.337467_337473dup
NG_015843.2:g.337467_337473dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1704_1710dup MANE Select ENSP00000261381.6:p.Trp571ArgfsTer10
ENST00000261381.6:c.1704_1710dup ENSP00000261381.6:p.Trp571ArgfsTer10
NM_022166.3:c.1704_1710dup NP_071449.1:p.Trp571ArgfsTer10
XM_011522574.1:c.1704_1710dup XP_011520876.1:p.Trp571ArgfsTer10
XR_933141.1:n.342_348dup
NR_135179.1:n.314_320dup
XM_017023539.2:c.1704_1710dup XP_016879028.1:p.Trp571ArgfsTer10
XM_017023540.2:c.1704_1710dup XP_016879029.1:p.Trp571ArgfsTer10
NM_022166.4:c.1704_1710dup MANE Select NP_071449.1:p.Trp571ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'