Canonical Allele Identifier: CA2171795479
Gene: CHST14 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472321_40472322delinsAC , CM000677.2:g.40472321_40472322delinsAC GRCh38
NC_000015.9:g.40764520_40764521delinsAC , CM000677.1:g.40764520_40764521delinsAC GRCh37
NC_000015.8:g.38551812_38551813delinsAC NCBI36
NG_017074.1:g.6361_6362delinsAC , LRG_600:g.6361_6362delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1108_1109delinsAC MANE Select ENSP00000307297.6:p.Thr370=
ENST00000306243.6:c.1108_1109delinsAC ENSP00000307297.5:p.Thr370=
ENST00000559991.1:c.1033_1034delinsAC ENSP00000453882.1:p.Thr345=
NM_130468.3:c.1108_1109delinsAC , LRG_600t1:c.1108_1109delinsAC NP_569735.1:p.Thr370=
NM_130468.4:c.1108_1109delinsAC MANE Select NP_569735.1:p.Thr370=
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