Canonical Allele Identifier: CA1657098080
Gene: NT5DC1 HGNC NCBI
COL10A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116130843_116130848delinsCAAAAT , CM000668.2:g.116130843_116130848delinsCAAAAT GRCh38
NC_000006.11:g.116452006_116452011delinsCAAAAT , CM000668.1:g.116452006_116452011delinsCAAAAT GRCh37
NC_000006.10:g.116558699_116558704delinsCAAAAT NCBI36
NG_008032.1:g.286_291delinsATTTTG
NG_021351.1:g.35008_35013delinsCAAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000319550.9:c.529+12898_529+12903delinsCAAAAT (NT5DC1) MANE Select ENSP00000326858.3:n.529+12898_529+12903delinsCAAAAT
ENST00000319550.8:c.529+12898_529+12903delinsCAAAAT (NT5DC1) ENSP00000326858.3:n.529+12898_529+12903delinsCAAAAT
ENST00000418500.1:c.-15-5341_-15-5336delinsATTTTG (COL10A1) ENSP00000392712.1:n.-15-5341_-15-5336delinsATTTTG
ENST00000419791.3:c.529+12898_529+12903delinsCAAAAT (NT5DC1) ENSP00000393578.1:n.529+12898_529+12903delinsCAAAAT
ENST00000460749.1:c.27+12898_27+12903delinsCAAAAT (NT5DC1)
NM_152729.2:c.529+12898_529+12903delinsCAAAAT (NT5DC1) NP_689942.2:n.529+12898_529+12903delinsCAAAAT
XM_006715333.2:c.-15-5341_-15-5336delinsATTTTG (COL10A1) XP_006715396.1:n.-15-5341_-15-5336delinsATTTTG
XM_006715377.2:c.529+12898_529+12903delinsCAAAAT (NT5DC1) XP_006715440.1:n.529+12898_529+12903delinsCAAAAT
XM_006715378.2:c.529+12898_529+12903delinsCAAAAT (NT5DC1) XP_006715441.1:n.529+12898_529+12903delinsCAAAAT
XM_011535432.1:c.-15-5341_-15-5336delinsATTTTG (COL10A1) XP_011533734.1:n.-15-5341_-15-5336delinsATTTTG
XM_011535433.1:c.-15-5341_-15-5336delinsATTTTG (COL10A1) XP_011533735.1:n.-15-5341_-15-5336delinsATTTTG
XM_006715333.3:c.-15-5341_-15-5336delinsATTTTG (COL10A1) XP_006715396.1:n.-15-5341_-15-5336delinsATTTTG
XM_006715378.3:c.529+12898_529+12903delinsCAAAAT (NT5DC1) XP_006715441.1:n.529+12898_529+12903delinsCAAAAT
XM_011535432.3:c.-15-5341_-15-5336delinsATTTTG (COL10A1) XP_011533734.1:n.-15-5341_-15-5336delinsATTTTG
XM_011535433.3:c.-15-5341_-15-5336delinsATTTTG (COL10A1) XP_011533735.1:n.-15-5341_-15-5336delinsATTTTG
NM_152729.3:c.529+12898_529+12903delinsCAAAAT (NT5DC1) MANE Select NP_689942.2:n.529+12898_529+12903delinsCAAAAT