Canonical Allele Identifier: CA2687149783
Gene: HGSNAT HGNC NCBI

Linked Data

gnomAD v4: 8-43140556-CGCGCTGCTGGCCCCCGGCGGCTCTTCGGGGCGCGATGCCCAGGCCGCGCCGCCACGAGGTGAGTGCACACCTCCTACCGCCGCCCGGCCGGCTACGAGCGCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43140560_43140661del , CM000670.2:g.43140560_43140661del GRCh38
NC_000008.10:g.42995703_42995804del , CM000670.1:g.42995703_42995804del GRCh37
NC_000008.9:g.43114860_43114961del NCBI36
NG_009552.1:g.5112_5213del

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.64_118+47del
ENST00000379644.8:c.64_118+47del
ENST00000517319.1:c.64_118+47del
ENST00000520704.1:c.-87_-33+47del
NM_152419.2:c.64_118+47del
XM_005273409.1:c.64_118+47del
XM_005273410.1:c.64_118+47del
XM_005273411.1:c.64_118+47del
XM_005273412.2:c.64_118+47del
NM_001363227.1:c.64_118+47del
NM_001363228.1:c.64_118+47del
NM_001363229.1:c.-770_-716+47del
XM_005273412.4:c.64_118+47del
NM_152419.3:c.64_118+47del
NM_001363227.2:c.64_118+47del
NM_001363228.2:c.64_118+47del
NM_001363229.2:c.-770_-716+47del
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