Canonical Allele Identifier: CA1779769323

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173304_43173308delinsTTTTC , CM000670.2:g.43173304_43173308delinsTTTTC	GRCh38
NC_000008.10:g.43028447_43028451delinsTTTTC , CM000670.1:g.43028447_43028451delinsTTTTC	GRCh37
NC_000008.9:g.43147604_43147608delinsTTTTC	NCBI36
NG_009552.1:g.37856_37860delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.821-409_821-405delinsTTTTC MANE Select	ENSP00000368965.4:n.821-409_821-405delinsTTTTC
ENST00000379644.8:c.821-409_821-405delinsTTTTC	ENSP00000368965.4:n.821-409_821-405delinsTTTTC
ENST00000520704.1:c.*270-409_*270-405delinsTTTTC	ENSP00000429109.1:n.*270-409_*270-405delinsTTTTC
ENST00000522082.5:c.62-409_62-405delinsTTTTC	ENSP00000430151.1:n.62-409_62-405delinsTTTTC
NM_152419.2:c.821-409_821-405delinsTTTTC	NP_689632.2:n.821-409_821-405delinsTTTTC
XM_005273409.1:c.821-409_821-405delinsTTTTC	XP_005273466.1:n.821-409_821-405delinsTTTTC
XM_005273410.1:c.821-409_821-405delinsTTTTC	XP_005273467.1:n.821-409_821-405delinsTTTTC
XM_005273411.1:c.820+918_820+922delinsTTTTC	XP_005273468.1:n.820+918_820+922delinsTTTTC
XM_005273412.2:c.821-409_821-405delinsTTTTC	XP_005273469.1:n.821-409_821-405delinsTTTTC
NM_001363227.1:c.821-409_821-405delinsTTTTC	NP_001350156.1:n.821-409_821-405delinsTTTTC
NM_001363228.1:c.820+918_820+922delinsTTTTC	NP_001350157.1:n.820+918_820+922delinsTTTTC
NM_001363229.1:c.-14+918_-14+922delinsTTTTC	NP_001350158.1:n.-14+918_-14+922delinsTTTTC
XM_005273412.4:c.821-409_821-405delinsTTTTC	XP_005273469.1:n.821-409_821-405delinsTTTTC
NM_152419.3:c.821-409_821-405delinsTTTTC MANE Select	NP_689632.2:n.821-409_821-405delinsTTTTC
NM_001363227.2:c.821-409_821-405delinsTTTTC	NP_001350156.1:n.821-409_821-405delinsTTTTC
NM_001363228.2:c.820+918_820+922delinsTTTTC	NP_001350157.1:n.820+918_820+922delinsTTTTC
NM_001363229.2:c.-14+918_-14+922delinsTTTTC	NP_001350158.1:n.-14+918_-14+922delinsTTTTC