Canonical Allele Identifier: CA2687155670

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43182166-T-TTCCTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182170_43182171insTGTCCT , CM000670.2:g.43182170_43182171insTGTCCT	GRCh38
NC_000008.10:g.43037313_43037314insTGTCCT , CM000670.1:g.43037313_43037314insTGTCCT	GRCh37
NC_000008.9:g.43156470_43156471insTGTCCT	NCBI36
NG_009552.1:g.46722_46723insTGTCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1038_1039insTGTCCT MANE Select	ENSP00000368965.4:p.Pro346_Gly347insCysPr...
ENST00000379644.8:c.1038_1039insTGTCCT	ENSP00000368965.4:p.Pro346_Gly347insCysPr...
ENST00000519000.1:n.524_525insTGTCCT
ENST00000521576.1:c.189_190insTGTCCT	ENSP00000429029.1:p.Pro63_Gly64insCysPro
ENST00000522082.5:c.279_280insTGTCCT	ENSP00000430151.1:p.Pro93_Gly94insCysPro
ENST00000524016.5:c.142_143insTGTCCT
NM_152419.2:c.1038_1039insTGTCCT	NP_689632.2:p.Pro346_Gly347insCysPro
XM_005273409.1:c.1038_1039insTGTCCT	XP_005273466.1:p.Pro346_Gly347insCysPro
XM_005273410.1:c.1038_1039insTGTCCT	XP_005273467.1:p.Pro346_Gly347insCysPro
XM_005273411.1:c.846_847insTGTCCT	XP_005273468.1:p.Pro282_Gly283insCysPro
XM_005273412.2:c.1038_1039insTGTCCT	XP_005273469.1:p.Pro346_Gly347insCysPro
NM_001363227.1:c.1038_1039insTGTCCT	NP_001350156.1:p.Pro346_Gly347insCysPro
NM_001363228.1:c.846_847insTGTCCT	NP_001350157.1:p.Pro282_Gly283insCysPro
NM_001363229.1:c.174_175insTGTCCT	NP_001350158.1:p.Pro58_Gly59insCysPro
XM_005273412.4:c.1038_1039insTGTCCT	XP_005273469.1:p.Pro346_Gly347insCysPro
NM_152419.3:c.1038_1039insTGTCCT MANE Select	NP_689632.2:p.Pro346_Gly347insCysPro
NM_001363227.2:c.1038_1039insTGTCCT	NP_001350156.1:p.Pro346_Gly347insCysPro
NM_001363228.2:c.846_847insTGTCCT	NP_001350157.1:p.Pro282_Gly283insCysPro
NM_001363229.2:c.174_175insTGTCCT	NP_001350158.1:p.Pro58_Gly59insCysPro