Canonical Allele Identifier: CA621200109

Gene: XYLT1

Linked Data

• dbSNP Id: rs1230147435
• gnomAD v2: 16-17232853-CGGCAACATAGGGAA-C
• gnomAD v3: 16-17138996-CGGCAACATAGGGAA-C
• gnomAD v4: 16-17138996-CGGCAACATAGGGAA-C
• MyVariant Identifiers: chr16:g.17232854_17232867del (hg19) ; chr16:g.17138997_17139010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138999_17139012del , CM000678.2:g.17138999_17139012del	GRCh38
NC_000016.9:g.17232856_17232869del , CM000678.1:g.17232856_17232869del	GRCh37
NC_000016.8:g.17140357_17140370del	NCBI36
NG_015843.1:g.336872_336885del
NG_015843.2:g.336872_336885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1588-479_1588-466del MANE Select	ENSP00000261381.6:n.1588-479_1588-466del
ENST00000261381.6:c.1588-479_1588-466del	ENSP00000261381.6:n.1588-479_1588-466del
NM_022166.3:c.1588-479_1588-466del	NP_071449.1:n.1588-479_1588-466del
XM_011522574.1:c.1588-479_1588-466del	XP_011520876.1:n.1588-479_1588-466del
XM_017023539.2:c.1588-479_1588-466del	XP_016879028.1:n.1588-479_1588-466del
XM_017023540.2:c.1588-479_1588-466del	XP_016879029.1:n.1588-479_1588-466del
NM_022166.4:c.1588-479_1588-466del MANE Select	NP_071449.1:n.1588-479_1588-466del