Canonical Allele Identifier: CA278644205

Gene: XYLT1

Linked Data

• dbSNP Id: rs758419230
• gnomAD v2: 16-17231966-AAATGGAATAAT-A
• gnomAD v3: 16-17138109-AAATGGAATAAT-A
• gnomAD v4: 16-17138109-AAATGGAATAAT-A
• MyVariant Identifiers: chr16:g.17231967_17231977del (hg19) ; chr16:g.17138110_17138120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138114_17138124del , CM000678.2:g.17138114_17138124del	GRCh38
NC_000016.9:g.17231971_17231981del , CM000678.1:g.17231971_17231981del	GRCh37
NC_000016.8:g.17139472_17139482del	NCBI36
NG_015843.1:g.337762_337772del
NG_015843.2:g.337762_337772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+235_1764+245del MANE Select	ENSP00000261381.6:n.1764+235_1764+245del
ENST00000261381.6:c.1764+235_1764+245del	ENSP00000261381.6:n.1764+235_1764+245del
NM_022166.3:c.1764+235_1764+245del	NP_071449.1:n.1764+235_1764+245del
XM_011522574.1:c.1764+235_1764+245del	XP_011520876.1:n.1764+235_1764+245del
XR_933140.1:n.336-128_336-118del
XR_933141.1:n.175-128_175-118del
XR_933143.1:n.237-128_237-118del
NR_135179.1:n.147-128_147-118del
XM_017023539.2:c.1764+235_1764+245del	XP_016879028.1:n.1764+235_1764+245del
XM_017023540.2:c.1764+235_1764+245del	XP_016879029.1:n.1764+235_1764+245del
NM_022166.4:c.1764+235_1764+245del MANE Select	NP_071449.1:n.1764+235_1764+245del