Canonical Allele Identifier: CA7927690

Gene: XYLT1

Linked Data

• dbSNP Id: rs765911652
• ExAC: 16:17228288 CTGCTTCTCAGCTCTCCTCT / C
• gnomAD v2: 16-17228288-CTGCTTCTCAGCTCTCCTCT-C
• gnomAD v3: 16-17134431-CTGCTTCTCAGCTCTCCTCT-C
• gnomAD v4: 16-17134431-CTGCTTCTCAGCTCTCCTCT-C
• MyVariant Identifiers: chr16:g.17228289_17228307del (hg19) ; chr16:g.17134432_17134450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17134432_17134450del , CM000678.2:g.17134432_17134450del	GRCh38
NC_000016.9:g.17228289_17228307del , CM000678.1:g.17228289_17228307del	GRCh37
NC_000016.8:g.17135790_17135808del	NCBI36
NG_015843.1:g.341432_341450del
NG_015843.2:g.341432_341450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.2027+23_2027+41del MANE Select	ENSP00000261381.6:n.2027+23_2027+41del
ENST00000261381.6:c.2027+23_2027+41del	ENSP00000261381.6:n.2027+23_2027+41del
NM_022166.3:c.2027+23_2027+41del	NP_071449.1:n.2027+23_2027+41del
XM_011522574.1:c.2027+23_2027+41del	XP_011520876.1:n.2027+23_2027+41del
XM_017023539.2:c.2027+23_2027+41del	XP_016879028.1:n.2027+23_2027+41del
XM_017023540.2:c.2027+23_2027+41del	XP_016879029.1:n.2027+23_2027+41del
NM_022166.4:c.2027+23_2027+41del MANE Select	NP_071449.1:n.2027+23_2027+41del