Canonical Allele Identifier: CA621654971

Gene: XYLT1

Linked Data

• dbSNP Id: rs1190227519
• gnomAD v2: 16-17231935-C-CTTTCTGTGCCTCACAGT
• gnomAD v3: 16-17138078-C-CTTTCTGTGCCTCACAGT
• gnomAD v4: 16-17138078-C-CTTTCTGTGCCTCACAGT
• MyVariant Identifiers: chr16:g.17231935_17231936insTTTCTGTGCCTCACAGT (hg19) ; chr16:g.17138078_17138079insTTTCTGTGCCTCACAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138083_17138099dup , CM000678.2:g.17138083_17138099dup	GRCh38
NC_000016.9:g.17231940_17231956dup , CM000678.1:g.17231940_17231956dup	GRCh37
NC_000016.8:g.17139441_17139457dup	NCBI36
NG_015843.1:g.337787_337803dup
NG_015843.2:g.337787_337803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+260_1764+276dup MANE Select	ENSP00000261381.6:n.1764+260_1764+276dup
ENST00000261381.6:c.1764+260_1764+276dup	ENSP00000261381.6:n.1764+260_1764+276dup
NM_022166.3:c.1764+260_1764+276dup	NP_071449.1:n.1764+260_1764+276dup
XM_011522574.1:c.1764+260_1764+276dup	XP_011520876.1:n.1764+260_1764+276dup
XR_933140.1:n.336-159_336-143dup
XR_933141.1:n.175-159_175-143dup
XR_933143.1:n.237-159_237-143dup
NR_135179.1:n.147-159_147-143dup
XM_017023539.2:c.1764+260_1764+276dup	XP_016879028.1:n.1764+260_1764+276dup
XM_017023540.2:c.1764+260_1764+276dup	XP_016879029.1:n.1764+260_1764+276dup
NM_022166.4:c.1764+260_1764+276dup MANE Select	NP_071449.1:n.1764+260_1764+276dup