Canonical Allele Identifier: CA718616740

Gene: XYLT1

Linked Data

• dbSNP Id: rs747223015
• gnomAD v3: 16-17138471-G-GGTT
• gnomAD v4: 16-17138471-G-GGTT
• MyVariant Identifiers: chr16:g.17232328_17232329insGTT (hg19) ; chr16:g.17138471_17138472insGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138477_17138479dup , CM000678.2:g.17138477_17138479dup	GRCh38
NC_000016.9:g.17232334_17232336dup , CM000678.1:g.17232334_17232336dup	GRCh37
NC_000016.8:g.17139835_17139837dup	NCBI36
NG_015843.1:g.337408_337410dup
NG_015843.2:g.337408_337410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1645_1647dup MANE Select	ENSP00000261381.6:p.Asn549_Leu550insAsn
ENST00000261381.6:c.1645_1647dup	ENSP00000261381.6:p.Asn549_Leu550insAsn
NM_022166.3:c.1645_1647dup	NP_071449.1:p.Asn549_Leu550insAsn
XM_011522574.1:c.1645_1647dup	XP_011520876.1:p.Asn549_Leu550insAsn
XR_933141.1:n.410_412dup
NR_135179.1:n.382_384dup
XM_017023539.2:c.1645_1647dup	XP_016879028.1:p.Asn549_Leu550insAsn
XM_017023540.2:c.1645_1647dup	XP_016879029.1:p.Asn549_Leu550insAsn
NM_022166.4:c.1645_1647dup MANE Select	NP_071449.1:p.Asn549_Leu550insAsn