Canonical Allele Identifier: CA2806078004
Gene: XYLT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17134592_17134604del , CM000678.2:g.17134592_17134604del GRCh38
NC_000016.9:g.17228449_17228461del , CM000678.1:g.17228449_17228461del GRCh37
NC_000016.8:g.17135950_17135962del NCBI36
NG_015843.1:g.341280_341292del
NG_015843.2:g.341280_341292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1898_1910del MANE Select ENSP00000261381.6:p.Asn633SerfsTer8
ENST00000261381.6:c.1898_1910del ENSP00000261381.6:p.Asn633SerfsTer8
NM_022166.3:c.1898_1910del NP_071449.1:p.Asn633SerfsTer8
XM_011522574.1:c.1898_1910del XP_011520876.1:p.Asn633SerfsTer8
XR_933140.1:n.82+42_82+54del
XR_933141.1:n.75+42_75+54del
XR_933143.1:n.82+42_82+54del
NR_135179.1:n.47+42_47+54del
XM_017023539.2:c.1898_1910del XP_016879028.1:p.Asn633SerfsTer8
XM_017023540.2:c.1898_1910del XP_016879029.1:p.Asn633SerfsTer8
NM_022166.4:c.1898_1910del MANE Select NP_071449.1:p.Asn633SerfsTer8