Canonical Allele Identifier: CA2631987362

Gene: XYLT1

Linked Data

• gnomAD v4: 16-17138180-A-AGTTAGAACATCCCTGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17138182_17138183insTAGAACATCCCTGACGT , CM000678.2:g.17138182_17138183insTAGAACATCCCTGACGT	GRCh38
NC_000016.9:g.17232039_17232040insTAGAACATCCCTGACGT , CM000678.1:g.17232039_17232040insTAGAACATCCCTGACGT	GRCh37
NC_000016.8:g.17139540_17139541insTAGAACATCCCTGACGT	NCBI36
NG_015843.1:g.337701_337702insGTCAGGGATGTTCTAAC
NG_015843.2:g.337701_337702insGTCAGGGATGTTCTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1764+174_1764+175insGTCAGGGATGTTCTAAC MANE Select	ENSP00000261381.6:n.1764+174_1764+175insGTCAGGGATGTTCTAAC
ENST00000261381.6:c.1764+174_1764+175insGTCAGGGATGTTCTAAC	ENSP00000261381.6:n.1764+174_1764+175insGTCAGGGATGTTCTAAC
NM_022166.3:c.1764+174_1764+175insGTCAGGGATGTTCTAAC	NP_071449.1:n.1764+174_1764+175insGTCAGGGATGTTCTAAC
XM_011522574.1:c.1764+174_1764+175insGTCAGGGATGTTCTAAC	XP_011520876.1:n.1764+174_1764+175insGTCAGGGATGTTCTAAC
XR_933140.1:n.336-60_336-59insTAGAACATCCCTGACGT
XR_933141.1:n.175-60_175-59insTAGAACATCCCTGACGT
XR_933143.1:n.237-60_237-59insTAGAACATCCCTGACGT
NR_135179.1:n.147-60_147-59insTAGAACATCCCTGACGT
XM_017023539.2:c.1764+174_1764+175insGTCAGGGATGTTCTAAC	XP_016879028.1:n.1764+174_1764+175insGTCAGGGATGTTCTAAC
XM_017023540.2:c.1764+174_1764+175insGTCAGGGATGTTCTAAC	XP_016879029.1:n.1764+174_1764+175insGTCAGGGATGTTCTAAC
NM_022166.4:c.1764+174_1764+175insGTCAGGGATGTTCTAAC MANE Select	NP_071449.1:n.1764+174_1764+175insGTCAGGGATGTTCTAAC