Canonical Allele Identifier: CA1657098019
Gene: NT5DC1 HGNC NCBI
COL10A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116130675_116130681delinsATATGAT , CM000668.2:g.116130675_116130681delinsATATGAT GRCh38
NC_000006.11:g.116451838_116451844delinsATATGAT , CM000668.1:g.116451838_116451844delinsATATGAT GRCh37
NC_000006.10:g.116558531_116558537delinsATATGAT NCBI36
NG_008032.1:g.453_459delinsATCATAT
NG_021351.1:g.34840_34846delinsATATGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000319550.9:c.529+12730_529+12736delinsATATGAT (NT5DC1) MANE Select ENSP00000326858.3:n.529+12730_529+12736delinsATATGAT
ENST00000319550.8:c.529+12730_529+12736delinsATATGAT (NT5DC1) ENSP00000326858.3:n.529+12730_529+12736delinsATATGAT
ENST00000418500.1:c.-15-5174_-15-5168delinsATCATAT (COL10A1) ENSP00000392712.1:n.-15-5174_-15-5168delinsATCATAT
ENST00000419791.3:c.529+12730_529+12736delinsATATGAT (NT5DC1) ENSP00000393578.1:n.529+12730_529+12736delinsATATGAT
ENST00000460749.1:c.27+12730_27+12736delinsATATGAT (NT5DC1)
NM_152729.2:c.529+12730_529+12736delinsATATGAT (NT5DC1) NP_689942.2:n.529+12730_529+12736delinsATATGAT
XM_006715333.2:c.-15-5174_-15-5168delinsATCATAT (COL10A1) XP_006715396.1:n.-15-5174_-15-5168delinsATCATAT
XM_006715377.2:c.529+12730_529+12736delinsATATGAT (NT5DC1) XP_006715440.1:n.529+12730_529+12736delinsATATGAT
XM_006715378.2:c.529+12730_529+12736delinsATATGAT (NT5DC1) XP_006715441.1:n.529+12730_529+12736delinsATATGAT
XM_011535432.1:c.-15-5174_-15-5168delinsATCATAT (COL10A1) XP_011533734.1:n.-15-5174_-15-5168delinsATCATAT
XM_011535433.1:c.-15-5174_-15-5168delinsATCATAT (COL10A1) XP_011533735.1:n.-15-5174_-15-5168delinsATCATAT
XM_006715333.3:c.-15-5174_-15-5168delinsATCATAT (COL10A1) XP_006715396.1:n.-15-5174_-15-5168delinsATCATAT
XM_006715378.3:c.529+12730_529+12736delinsATATGAT (NT5DC1) XP_006715441.1:n.529+12730_529+12736delinsATATGAT
XM_011535432.3:c.-15-5174_-15-5168delinsATCATAT (COL10A1) XP_011533734.1:n.-15-5174_-15-5168delinsATCATAT
XM_011535433.3:c.-15-5174_-15-5168delinsATCATAT (COL10A1) XP_011533735.1:n.-15-5174_-15-5168delinsATCATAT
NM_152729.3:c.529+12730_529+12736delinsATATGAT (NT5DC1) MANE Select NP_689942.2:n.529+12730_529+12736delinsATATGAT