Canonical Allele Identifier: CA278644303

Gene: XYLT1

Linked Data

• dbSNP Id: rs202039099
• gnomAD v4: 16-17138230-AAT-A
• MyVariant Identifiers: chr16:g.17232088_17232089del (hg19) ; chr16:g.17138231_17138232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138231_17138232del , CM000678.2:g.17138231_17138232del	GRCh38
NC_000016.9:g.17232088_17232089del , CM000678.1:g.17232088_17232089del	GRCh37
NC_000016.8:g.17139589_17139590del	NCBI36
NG_015843.1:g.337650_337651del
NG_015843.2:g.337650_337651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+123_1764+124del MANE Select	ENSP00000261381.6:n.1764+123_1764+124del
ENST00000261381.6:c.1764+123_1764+124del	ENSP00000261381.6:n.1764+123_1764+124del
NM_022166.3:c.1764+123_1764+124del	NP_071449.1:n.1764+123_1764+124del
XM_011522574.1:c.1764+123_1764+124del	XP_011520876.1:n.1764+123_1764+124del
XR_933140.1:n.336-11_336-10del
XR_933141.1:n.175-11_175-10del
XR_933143.1:n.237-11_237-10del
NR_135179.1:n.147-11_147-10del
XM_017023539.2:c.1764+123_1764+124del	XP_016879028.1:n.1764+123_1764+124del
XM_017023540.2:c.1764+123_1764+124del	XP_016879029.1:n.1764+123_1764+124del
NM_022166.4:c.1764+123_1764+124del MANE Select	NP_071449.1:n.1764+123_1764+124del