Canonical Allele Identifier: CA7927815

Gene: XYLT1

Linked Data

• dbSNP Id: rs778901722
• ExAC: 16:17232273 ATGTGCT / A
• gnomAD v2: 16-17232273-ATGTGCT-A
• MyVariant Identifiers: chr16:g.17232274_17232279del (hg19) ; chr16:g.17138417_17138422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138420_17138425del , CM000678.2:g.17138420_17138425del	GRCh38
NC_000016.9:g.17232277_17232282del , CM000678.1:g.17232277_17232282del	GRCh37
NC_000016.8:g.17139778_17139783del	NCBI36
NG_015843.1:g.337460_337465del
NG_015843.2:g.337460_337465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1697_1702del MANE Select	ENSP00000261381.6:p.Lys566_His567del
ENST00000261381.6:c.1697_1702del	ENSP00000261381.6:p.Lys566_His567del
NM_022166.3:c.1697_1702del	NP_071449.1:p.Lys566_His567del
XM_011522574.1:c.1697_1702del	XP_011520876.1:p.Lys566_His567del
XR_933141.1:n.353_358del
NR_135179.1:n.325_330del
XM_017023539.2:c.1697_1702del	XP_016879028.1:p.Lys566_His567del
XM_017023540.2:c.1697_1702del	XP_016879029.1:p.Lys566_His567del
NM_022166.4:c.1697_1702del MANE Select	NP_071449.1:p.Lys566_His567del