Canonical Allele Identifier: CA2579159208

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173804_43173815del , CM000670.2:g.43173804_43173815del	GRCh38
NC_000008.10:g.43028947_43028958del , CM000670.1:g.43028947_43028958del	GRCh37
NC_000008.9:g.43148104_43148115del	NCBI36
NG_009552.1:g.38356_38367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.851+61_851+72del MANE Select	ENSP00000368965.4:n.851+61_851+72del
ENST00000379644.8:c.851+61_851+72del	ENSP00000368965.4:n.851+61_851+72del
ENST00000520704.1:c.*361_*372del	ENSP00000429109.1:n.*361_*372del
ENST00000522082.5:c.92+61_92+72del	ENSP00000430151.1:n.92+61_92+72del
NM_152419.2:c.851+61_851+72del	NP_689632.2:n.851+61_851+72del
XM_005273409.1:c.851+61_851+72del	XP_005273466.1:n.851+61_851+72del
XM_005273410.1:c.851+61_851+72del	XP_005273467.1:n.851+61_851+72del
XM_005273411.1:c.820+1418_820+1429del	XP_005273468.1:n.820+1418_820+1429del
XM_005273412.2:c.851+61_851+72del	XP_005273469.1:n.851+61_851+72del
NM_001363227.1:c.851+61_851+72del	NP_001350156.1:n.851+61_851+72del
NM_001363228.1:c.820+1418_820+1429del	NP_001350157.1:n.820+1418_820+1429del
NM_001363229.1:c.-14+1418_-14+1429del	NP_001350158.1:n.-14+1418_-14+1429del
XM_005273412.4:c.851+61_851+72del	XP_005273469.1:n.851+61_851+72del
NM_152419.3:c.851+61_851+72del MANE Select	NP_689632.2:n.851+61_851+72del
NM_001363227.2:c.851+61_851+72del	NP_001350156.1:n.851+61_851+72del
NM_001363228.2:c.820+1418_820+1429del	NP_001350157.1:n.820+1418_820+1429del
NM_001363229.2:c.-14+1418_-14+1429del	NP_001350158.1:n.-14+1418_-14+1429del