Canonical Allele Identifier: CA1779759888
Gene: HGSNAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43192232_43192233delinsGT , CM000670.2:g.43192232_43192233delinsGT GRCh38
NC_000008.10:g.43047375_43047376delinsGT , CM000670.1:g.43047375_43047376delinsGT GRCh37
NC_000008.9:g.43166532_43166533delinsGT NCBI36
NG_009552.1:g.56784_56785delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.1251-72_1251-71delinsGT MANE Select ENSP00000368965.4:n.1251-72_1251-71delins...
ENST00000379644.8:c.1251-72_1251-71delinsGT ENSP00000368965.4:n.1251-72_1251-71delins...
ENST00000520678.1:n.184-72_184-71delinsGT
ENST00000521576.1:c.402-72_402-71delinsGT ENSP00000429029.1:n.402-72_402-71delinsGT...
ENST00000524016.5:c.355-72_355-71delinsGT
NM_152419.2:c.1251-72_1251-71delinsGT NP_689632.2:n.1251-72_1251-71delinsGT
XM_005273409.1:c.1251-72_1251-71delinsGT XP_005273466.1:n.1251-72_1251-71delinsGT
XM_005273410.1:c.1251-72_1251-71delinsGT XP_005273467.1:n.1251-72_1251-71delinsGT
XM_005273411.1:c.1059-72_1059-71delinsGT XP_005273468.1:n.1059-72_1059-71delinsGT
XM_005273412.2:c.1251-72_1251-71delinsGT XP_005273469.1:n.1251-72_1251-71delinsGT
NM_001363227.1:c.1251-72_1251-71delinsGT NP_001350156.1:n.1251-72_1251-71delinsGT
NM_001363228.1:c.1059-72_1059-71delinsGT NP_001350157.1:n.1059-72_1059-71delinsGT
NM_001363229.1:c.387-72_387-71delinsGT NP_001350158.1:n.387-72_387-71delinsGT
XM_005273412.4:c.1251-72_1251-71delinsGT XP_005273469.1:n.1251-72_1251-71delinsGT
NM_152419.3:c.1251-72_1251-71delinsGT MANE Select NP_689632.2:n.1251-72_1251-71delinsGT
NM_001363227.2:c.1251-72_1251-71delinsGT NP_001350156.1:n.1251-72_1251-71delinsGT
NM_001363228.2:c.1059-72_1059-71delinsGT NP_001350157.1:n.1059-72_1059-71delinsGT
NM_001363229.2:c.387-72_387-71delinsGT NP_001350158.1:n.387-72_387-71delinsGT