Canonical Allele Identifier: CA975205547

Gene: XYLT1

Linked Data

• dbSNP Id: rs2030821903
• gnomAD v3: 16-17138161-GTGGTTAGAACATCC-G
• gnomAD v4: 16-17138161-GTGGTTAGAACATCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138162_17138175del , CM000678.2:g.17138162_17138175del	GRCh38
NC_000016.9:g.17232019_17232032del , CM000678.1:g.17232019_17232032del	GRCh37
NC_000016.8:g.17139520_17139533del	NCBI36
NG_015843.1:g.337707_337720del
NG_015843.2:g.337707_337720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+180_1764+193del MANE Select	ENSP00000261381.6:n.1764+180_1764+193del
ENST00000261381.6:c.1764+180_1764+193del	ENSP00000261381.6:n.1764+180_1764+193del
NM_022166.3:c.1764+180_1764+193del	NP_071449.1:n.1764+180_1764+193del
XM_011522574.1:c.1764+180_1764+193del	XP_011520876.1:n.1764+180_1764+193del
XR_933140.1:n.336-80_336-67del
XR_933141.1:n.175-80_175-67del
XR_933143.1:n.237-80_237-67del
NR_135179.1:n.147-80_147-67del
XM_017023539.2:c.1764+180_1764+193del	XP_016879028.1:n.1764+180_1764+193del
XM_017023540.2:c.1764+180_1764+193del	XP_016879029.1:n.1764+180_1764+193del
NM_022166.4:c.1764+180_1764+193del MANE Select	NP_071449.1:n.1764+180_1764+193del