Canonical Allele Identifier: CA1657098125
Gene: NT5DC1 HGNC NCBI
COL10A1 HGNC NCBI

Linked Data

dbSNP Id: rs1779443176

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116130942del , CM000668.2:g.116130942del GRCh38
NC_000006.11:g.116452105del , CM000668.1:g.116452105del GRCh37
NC_000006.10:g.116558798del NCBI36
NG_008032.1:g.193del
NG_021351.1:g.35107del

Transcript Alleles

HGVS Amino-acid change
ENST00000319550.9:c.529+12997del (NT5DC1) MANE Select ENSP00000326858.3:n.529+12997del
ENST00000319550.8:c.529+12997del (NT5DC1) ENSP00000326858.3:n.529+12997del
ENST00000418500.1:c.-15-5434del (COL10A1) ENSP00000392712.1:n.-15-5434del
ENST00000419791.3:c.529+12997del (NT5DC1) ENSP00000393578.1:n.529+12997del
ENST00000460749.1:c.27+12997del (NT5DC1)
NM_152729.2:c.529+12997del (NT5DC1) NP_689942.2:n.529+12997del
XM_006715333.2:c.-15-5434del (COL10A1) XP_006715396.1:n.-15-5434del
XM_006715377.2:c.529+12997del (NT5DC1) XP_006715440.1:n.529+12997del
XM_006715378.2:c.529+12997del (NT5DC1) XP_006715441.1:n.529+12997del
XM_011535432.1:c.-15-5434del (COL10A1) XP_011533734.1:n.-15-5434del
XM_011535433.1:c.-15-5434del (COL10A1) XP_011533735.1:n.-15-5434del
XM_006715333.3:c.-15-5434del (COL10A1) XP_006715396.1:n.-15-5434del
XM_006715378.3:c.529+12997del (NT5DC1) XP_006715441.1:n.529+12997del
XM_011535432.3:c.-15-5434del (COL10A1) XP_011533734.1:n.-15-5434del
XM_011535433.3:c.-15-5434del (COL10A1) XP_011533735.1:n.-15-5434del
NM_152729.3:c.529+12997del (NT5DC1) MANE Select NP_689942.2:n.529+12997del