Canonical Allele Identifier: CA1779759894

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192237_43192264delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA , CM000670.2:g.43192237_43192264delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	GRCh38
NC_000008.10:g.43047380_43047407delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA , CM000670.1:g.43047380_43047407delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	GRCh37
NC_000008.9:g.43166537_43166564delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NCBI36
NG_009552.1:g.56789_56816delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA MANE Select	ENSP00000368965.4:n.1251-67_1251-40delins...
ENST00000379644.8:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	ENSP00000368965.4:n.1251-67_1251-40delins...
ENST00000520678.1:n.184-67_184-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA
ENST00000521576.1:c.402-67_402-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	ENSP00000429029.1:n.402-67_402-40delinsTT...
ENST00000524016.5:c.355-67_355-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA
NM_152419.2:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_689632.2:n.1251-67_1251-40delinsTTTATT...
XM_005273409.1:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	XP_005273466.1:n.1251-67_1251-40delinsTTT...
XM_005273410.1:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	XP_005273467.1:n.1251-67_1251-40delinsTTT...
XM_005273411.1:c.1059-67_1059-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	XP_005273468.1:n.1059-67_1059-40delinsTTT...
XM_005273412.2:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	XP_005273469.1:n.1251-67_1251-40delinsTTT...
NM_001363227.1:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_001350156.1:n.1251-67_1251-40delinsTTT...
NM_001363228.1:c.1059-67_1059-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_001350157.1:n.1059-67_1059-40delinsTTT...
NM_001363229.1:c.387-67_387-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_001350158.1:n.387-67_387-40delinsTTTAT...
XM_005273412.4:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	XP_005273469.1:n.1251-67_1251-40delinsTTT...
NM_152419.3:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA MANE Select	NP_689632.2:n.1251-67_1251-40delinsTTTATT...
NM_001363227.2:c.1251-67_1251-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_001350156.1:n.1251-67_1251-40delinsTTT...
NM_001363228.2:c.1059-67_1059-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_001350157.1:n.1059-67_1059-40delinsTTT...
NM_001363229.2:c.387-67_387-40delinsTTTATTCTTGTCCCTCTGTTCGCCCTTA	NP_001350158.1:n.387-67_387-40delinsTTTAT...